Muscle Hypotonia
Muscle Proteins
Muscle, Skeletal
Muscle, Smooth
Abnormalities, Multiple
Muscle Fibers, Skeletal
Intellectual Disability
Muscle Development
Muscle Contraction
Facies
Prader-Willi Syndrome
Muscle Fatigue
Muscle Fibers, Fast-Twitch
Muscle Fibers, Slow-Twitch
Myopathies, Structural, Congenital
Myopathies, Nemaline
Myocytes, Smooth Muscle
Mitochondria, Muscle
Muscle Hypertonia
Developmental Disabilities
Neck Muscles
Oculomotor Muscles
Microcephaly
Ataxia
Muscle, Striated
Muscle Spindles
Electromyography
Muscle Weakness
Papillary Muscles
Myopathy, Central Core
Chromosomes, Human, X
Ehlers-Danlos Syndrome
Connective Tissue Diseases
Collagen
Collagen Type III
Connective Tissue
Collagen Type V
Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase
Acute barium intoxication following ingestion of ceramic glaze. (1/246)
A case of deliberate overdose of barium sulphide in a psychiatric setting is presented, with resulting flaccid paralysis, malignant arrhythmia, respiratory arrest and severe hypokalaemia, but ultimately with complete recovery. The degree of paralysis appears to be related directly to serum barium levels. The value of early haemodialysis, particularly with respiratory paralysis and hypokalaemia, is emphasised. (+info)Molecular epidemiology of poliovirus infection in Tunisia. (2/246)
This report is an overview of poliomyelitis surveillance in Tunisia from 1991 to 1996. In all, 2088 stool specimens, collected from 152 acute flaccid paralysis (AFP) cases and from 1747 of their healthy contacts were investigated. Virus isolation was done systematically in RD and HEp-2C cell lines and isolated viruses were typed by sero-neutralisation as polioviruses or non-polio enteroviruses. Poliovirus isolates were analysed systematically for their wild or vaccine-related origin by two methods--one based on antigenic differences and one on genetic differences between strains. All type 2 polioviruses were vaccine-related and most wild viruses belonged to polio serotype 3. Wild polio type 3 viruses were detected in 1991 and 1992 in six cases of paralytic polio. A silent circulation of wild polio 1 and wild polio 3 was detected in 1994. No wild virus was detected in Tunisia from 1995 onwards. Wild polioviruses were sequenced and compared with Tunisian wild strains isolated during the 1980s, as well as other genotypes from the international database. These investigations revealed a single Tunisian polio 3 genotype that has been circulating from 1985 to 1994 and two different polio 1 genotypes. These results reflect effective control strategies within the country and contribute to the improvement of the polio eradication programme effectiveness at national and global levels. (+info)Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. (3/246)
Prader-Willi syndrome (PWS) is caused by paternal deficiency of human chromosome 15q11-q13. There is conflicting evidence from human translocations regarding the direct involvement of SNRPN in the pathogenesis of PWS and it is not known if the phenotypic features result from the loss of expression of a single imprinted gene or multiple genes. In an attempt to dissect genotype/phenotype correlations for the homologous region of mouse chromosome 7C, we prepared three mutant genotypes: (i) mice with a deletion of Snrpn exon 2, which removes a portion of a small, upstream open reading frame (ORF); (ii) mice with double targeting for Snrpn exon 2 and Ube3a; (iii) mice deleted from Snrpn to Ube3a, removing coding exons for both loci and intervening genes. Mice deleted for Snrpn exon 2 have no obvious phenotypic abnormalities and switching of the genomic imprint for the region is conserved. Mice carrying the Snrpn - Ube3a deletion on the paternal chromosome showed severe growth retardation, hypotonia and approximately 80% lethality before weaning. The surviving mice were fertile and were not obese up to 14 months of age. The deletion was transmitted for multiple generations and continued to cause partial lethality when inherited paternally, but not when inherited maternally. The normal imprinted expression and methylation patterns of necdin, a gene outside the deletion region, indicate that the deletion is not an imprinting mutation. The data suggest the presence of a paternally expressed structural gene between Snrpn and Ipw whose deficiency causes lethality, although other possibilities exist, including position effects on expression of imprinted genes or that simultaneous deficiency of both ORFs of Snrpn causes lethality. (+info)Progressive myelopathy caused by dural arteriovenous fistula at the craniocervical junction--case report. (4/246)
A 68-year-old male presented an unusual dural arteriovenous fistula (AVF) located at the craniocervical junction. Magnetic resonance imaging revealed dilated perimedullary veins around the spinal cord at C-1 and C-2 levels, as well as high intensity signals in the spinal cord on T2-weighted images. Vertebral angiography identified an AVF at the point where the right vertebral artery penetrates the dura. The fistula was a single and direct communication between the vertebral artery and the spinal vein. Surgical interruption of the fistula at its venous side resulted in prompt improvement of both motor and sensory signs and symptoms. (+info)A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect. (5/246)
The clinical features of Angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition. We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and mild mental retardation. Based on the latter findings, the patients were initially suspected of having Prader-Willi syndrome. DNA methylation analysis of SNRPN and D15S63, however, revealed an AS pattern, ie the maternal band was faint or absent. Cytogenetic studies and microsatellite analysis demonstrated apparently normal chromosomes 15 of biparental inheritance. We conclude that these patients have an imprinting defect and a previously unrecognised form of AS. The mild phenotype may be explained by an incomplete imprinting defect or by cellular mosaicism. (+info)Lessons from diagnostic investigations of patients with poliomyelitis and their direct contacts for the present surveillance of acute flaccid paralysis. (6/246)
One of the key strategies for the global eradication of poliomyelitis is the virological investigation of stool samples in cases of acute flaccid paralysis (AFP) to exclude poliovirus as a possible cause. Clinical specimens from a serotype 3 outbreak provided an opportunity to examine the potential of newly developed methods for the diagnosis of poliomyelitis. The virus isolation rate was maximal (89.6%) during the first 2 weeks after the onset of paralysis and then dropped sharply to 18.6%. In contrast, a high percentage of patients tested positive for poliovirus-specific IgM (93.9%) in the early phase of the infection and remained positive for up to 8 weeks. Virus isolation would have correctly identified only 54.9% of the AFP cases. This rate would have been increased to 92% through the use of the poliovirus-specific IgM ELISA. The IgM ELISA could serve as an important additional tool for the rapid diagnosis of poliomyelitis. (+info)Periacetabular osteotomy in the treatment of neurogenic acetabular dysplasia. (7/246)
We carried out the Bernese periacetabular osteotomy for the treatment of 13 dysplastic hips in 11 skeletally mature patients with an underlying neurological diagnosis. Seven hips had flaccid paralysis and six were spastic. The mean age at the time of surgery was 23 years and the mean length of follow-up was 6.4 years. Preoperatively, 11 hips had pain and two had progressive subluxation. Before operation the mean Tonnis angle was 33 degrees, the mean centre-edge angle was -10 degrees, and the mean extrusion index was 53%. Postoperatively, they were 8 degrees, 25 degrees and 15%, respectively. Pain was eliminated in 7 patients and reduced in four in those who had preoperative pain. One patient developed pain secondary to anterior impingement from excessive retroversion of the acetabulum. Four required a varus proximal femoral osteotomy at the time of the pelvic procedure and one a late varus proximal femoral osteotomy for progressive subluxation. Before operation no patient had arthritis. At the most recent follow-up one had early arthritis of the hip (Tonnis grade I) and one had advanced arthritis (Tonnis grade III). Our results suggest that the Bernese periacetabular osteotomy can be used successfully to treat neurogenic acetabular dysplasia in skeletally mature patients. (+info)Cryptic subtelomeric translocations in the 22q13 deletion syndrome. (8/246)
Cryptic subtelomeric rearrangements are suspected to underlie a substantial portion of terminal chromosomal deletions. We have previously described two children, one with an unbalanced subtelomeric rearrangement resulting in deletion of 22q13-->qter and duplication of 1qter, and a second with an apparently simple 22q13-->qter deletion. We have examined two additional patients with deletions of 22q13-->qter. In one of the new patients presented here, clinical findings were suggestive of the 22q13 deletion syndrome and FISH for 22qter was requested. Chromosome studies suggested an abnormality involving the telomere of one 22q (46,XX,?add(22)(q13. 3)). FISH using Oncor D22S39 and Vysis ARSA probes confirmed a terminal deletion. A multi-telomere FISH assay showed a signal from 19qter on the deleted chromosome 22. Results were confirmed with 19qtel and 22qtel specific probes. The patient is therefore trisomic for 19qter and monosomic for 22qter. The patient's mother was found to have a translocation (19;22)(q13.42;q13.31). We also re-examined chromosomes from two patients previously diagnosed with 22q deletions who were not known to have a rearrangement using the multi-telomere assay. One of these patients was found to have a derivative chromosome 22 (der(22)t(6;22)(p25;q13)). No evidence of rearrangement was detected in the other patient. Thus we have found the 22q13 deletion to be associated with a translocation in three of four patients. This report illustrates the usefulness of examining patients with hypotonia, severe language delay, and mild facial dysmorphism for this syndrome and suggests that most of these deletions may be unbalanced subtelomeric rearrangements. (+info)Muscle hypotonia, also known as decreased muscle tone, refers to a condition where the muscles appear to be flaccid or lacking in tension and stiffness. This results in reduced resistance to passive movements, making the limbs feel "floppy" or "like a rag doll." It can affect any muscle group in the body and can be caused by various medical conditions, including neurological disorders, genetic diseases, and injuries to the nervous system. Hypotonia should not be confused with muscle weakness, which refers to the inability to generate normal muscle strength.
A muscle is a soft tissue in our body that contracts to produce force and motion. It is composed mainly of specialized cells called muscle fibers, which are bound together by connective tissue. There are three types of muscles: skeletal (voluntary), smooth (involuntary), and cardiac. Skeletal muscles attach to bones and help in movement, while smooth muscles are found within the walls of organs and blood vessels, helping with functions like digestion and circulation. Cardiac muscle is the specific type that makes up the heart, allowing it to pump blood throughout the body.
Muscle proteins are a type of protein that are found in muscle tissue and are responsible for providing structure, strength, and functionality to muscles. The two major types of muscle proteins are:
1. Contractile proteins: These include actin and myosin, which are responsible for the contraction and relaxation of muscles. They work together to cause muscle movement by sliding along each other and shortening the muscle fibers.
2. Structural proteins: These include titin, nebulin, and desmin, which provide structural support and stability to muscle fibers. Titin is the largest protein in the human body and acts as a molecular spring that helps maintain the integrity of the sarcomere (the basic unit of muscle contraction). Nebulin helps regulate the length of the sarcomere, while desmin forms a network of filaments that connects adjacent muscle fibers together.
Overall, muscle proteins play a critical role in maintaining muscle health and function, and their dysregulation can lead to various muscle-related disorders such as muscular dystrophy, myopathies, and sarcopenia.
Skeletal muscle, also known as striated or voluntary muscle, is a type of muscle that is attached to bones by tendons or aponeuroses and functions to produce movements and support the posture of the body. It is composed of long, multinucleated fibers that are arranged in parallel bundles and are characterized by alternating light and dark bands, giving them a striped appearance under a microscope. Skeletal muscle is under voluntary control, meaning that it is consciously activated through signals from the nervous system. It is responsible for activities such as walking, running, jumping, and lifting objects.
Smooth muscle, also known as involuntary muscle, is a type of muscle that is controlled by the autonomic nervous system and functions without conscious effort. These muscles are found in the walls of hollow organs such as the stomach, intestines, bladder, and blood vessels, as well as in the eyes, skin, and other areas of the body.
Smooth muscle fibers are shorter and narrower than skeletal muscle fibers and do not have striations or sarcomeres, which give skeletal muscle its striped appearance. Smooth muscle is controlled by the autonomic nervous system through the release of neurotransmitters such as acetylcholine and norepinephrine, which bind to receptors on the smooth muscle cells and cause them to contract or relax.
Smooth muscle plays an important role in many physiological processes, including digestion, circulation, respiration, and elimination. It can also contribute to various medical conditions, such as hypertension, gastrointestinal disorders, and genitourinary dysfunction, when it becomes overactive or underactive.
'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.
Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.
Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.
The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.
Skeletal muscle fibers, also known as striated muscle fibers, are the type of muscle cells that make up skeletal muscles, which are responsible for voluntary movements of the body. These muscle fibers are long, cylindrical, and multinucleated, meaning they contain multiple nuclei. They are surrounded by a connective tissue layer called the endomysium, and many fibers are bundled together into fascicles, which are then surrounded by another layer of connective tissue called the perimysium.
Skeletal muscle fibers are composed of myofibrils, which are long, thread-like structures that run the length of the fiber. Myofibrils contain repeating units called sarcomeres, which are responsible for the striated appearance of skeletal muscle fibers. Sarcomeres are composed of thick and thin filaments, which slide past each other during muscle contraction to shorten the sarcomere and generate force.
Skeletal muscle fibers can be further classified into two main types based on their contractile properties: slow-twitch (type I) and fast-twitch (type II). Slow-twitch fibers have a high endurance capacity and are used for sustained, low-intensity activities such as maintaining posture. Fast-twitch fibers, on the other hand, have a higher contractile speed and force generation capacity but fatigue more quickly and are used for powerful, explosive movements.
A smooth muscle within the vascular system refers to the involuntary, innervated muscle that is found in the walls of blood vessels. These muscles are responsible for controlling the diameter of the blood vessels, which in turn regulates blood flow and blood pressure. They are called "smooth" muscles because their individual muscle cells do not have the striations, or cross-striped patterns, that are observed in skeletal and cardiac muscle cells. Smooth muscle in the vascular system is controlled by the autonomic nervous system and by hormones, and can contract or relax slowly over a period of time.
Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.
Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.
Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.
It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.
Muscle development, also known as muscle hypertrophy, refers to the increase in size and mass of the muscles through a process called myofiber growth. This is primarily achieved through resistance or strength training exercises that cause micro-tears in the muscle fibers, leading to an inflammatory response and the release of hormones that promote muscle growth. As the muscles repair themselves, they become larger and stronger than before. Proper nutrition, including adequate protein intake, and rest are also essential components of muscle development.
It is important to note that while muscle development can lead to an increase in strength and muscular endurance, it does not necessarily result in improved athletic performance or overall fitness. A well-rounded exercise program that includes cardiovascular activity, flexibility training, and resistance exercises is recommended for optimal health and fitness outcomes.
Muscle contraction is the physiological process in which muscle fibers shorten and generate force, leading to movement or stability of a body part. This process involves the sliding filament theory where thick and thin filaments within the sarcomeres (the functional units of muscles) slide past each other, facilitated by the interaction between myosin heads and actin filaments. The energy required for this action is provided by the hydrolysis of adenosine triphosphate (ATP). Muscle contractions can be voluntary or involuntary, and they play a crucial role in various bodily functions such as locomotion, circulation, respiration, and posture maintenance.
"Facies" is a medical term that refers to the typical appearance of a person or part of the body, particularly the face, which may provide clues about their underlying medical condition or genetic background. A specific facies is often associated with certain syndromes or disorders. For example, a "downsyndrome facies" refers to the distinctive facial features commonly found in individuals with Down syndrome, such as a flattened nasal bridge, almond-shaped eyes, and an upward slant to the eyelids.
It's important to note that while facies can provide valuable diagnostic information, it should be used in conjunction with other clinical findings and genetic testing to make a definitive diagnosis. Additionally, facies should be described objectively and without judgment, as they are simply physical characteristics associated with certain medical conditions.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
Prader-Willi Syndrome (PWS) is a genetic disorder that affects several parts of the body and is characterized by a range of symptoms including:
1. Developmental delays and intellectual disability.
2. Hypotonia (low muscle tone) at birth, which can lead to feeding difficulties in infancy.
3. Excessive appetite and obesity, typically beginning around age 2, due to a persistent hunger drive and decreased satiety.
4. Behavioral problems such as temper tantrums, stubbornness, and compulsive behaviors.
5. Hormonal imbalances leading to short stature, small hands and feet, incomplete sexual development, and decreased bone density.
6. Distinctive facial features including a thin upper lip, almond-shaped eyes, and a narrowed forehead.
7. Sleep disturbances such as sleep apnea or excessive daytime sleepiness.
PWS is caused by the absence of certain genetic material on chromosome 15, which results in abnormal gene function. It affects both males and females equally and has an estimated incidence of 1 in 10,000 to 30,000 live births. Early diagnosis and management can help improve outcomes for individuals with PWS.
Muscle fatigue is a condition characterized by a reduction in the ability of a muscle to generate force or power, typically after prolonged or strenuous exercise. It is often accompanied by sensations of tiredness, weakness, and discomfort in the affected muscle(s). The underlying mechanisms of muscle fatigue are complex and involve both peripheral factors (such as changes in muscle metabolism, ion handling, and neuromuscular transmission) and central factors (such as changes in the nervous system's ability to activate muscles). Muscle fatigue can also occur as a result of various medical conditions or medications that impair muscle function.
Fast-twitch muscle fibers, also known as type II fibers, are a type of skeletal muscle fiber that are characterized by their rapid contraction and relaxation rates. These fibers have a larger diameter and contain a higher concentration of glycogen, which serves as a quick source of energy for muscle contractions. Fast-twitch fibers are further divided into two subcategories: type IIa and type IIb (or type IIx). Type IIa fibers have a moderate amount of mitochondria and can utilize both aerobic and anaerobic metabolic pathways, making them fatigue-resistant. Type IIb fibers, on the other hand, have fewer mitochondria and primarily use anaerobic metabolism, leading to faster fatigue. Fast-twitch fibers are typically used in activities that require quick, powerful movements such as sprinting or weightlifting.
Muscle denervation is a medical term that refers to the loss of nerve supply to a muscle or group of muscles. This can occur due to various reasons, such as injury to the nerves, nerve compression, or certain medical conditions like neuromuscular disorders. When the nerve supply to the muscle is interrupted, it can lead to muscle weakness, atrophy (wasting), and ultimately, paralysis.
In denervation, the communication between the nervous system and the muscle is disrupted, which means that the muscle no longer receives signals from the brain to contract and move. Over time, this can result in significant muscle wasting and disability, depending on the severity and extent of the denervation.
Denervation may be treated with various therapies, including physical therapy, medication, or surgical intervention, such as nerve grafting or muscle transfers, to restore function and prevent further muscle wasting. The specific treatment approach will depend on the underlying cause and severity of the denervation.
Slow-twitch muscle fibers, also known as type I muscle fibers, are specialized skeletal muscle cells that contract relatively slowly and generate less force than fast-twitch fibers. However, they can maintain contraction for longer periods of time and have a higher resistance to fatigue. These fibers primarily use oxygen and aerobic metabolism to produce energy, making them highly efficient during prolonged, lower-intensity activities such as long-distance running or cycling. Slow-twitch muscle fibers also have an abundant blood supply, which allows for efficient delivery of oxygen and removal of waste products.
Congenital structural myopathies are a group of inherited genetic disorders that affect the structure and function of skeletal muscles. These conditions are present at birth or develop in early infancy and are caused by genetic mutations that lead to abnormalities in the muscle contractile apparatus, including the sarcomere, muscle filaments, and muscle membrane.
The structural abnormalities can affect the muscle fibers' ability to generate force, leading to muscle weakness, hypotonia (low muscle tone), and other symptoms. The severity of the condition can vary widely, from mild to severe, depending on the specific type of myopathy and the extent of muscle involvement.
Examples of congenital structural myopathies include:
1. Congenital fiber-type disproportion (CFTD): a condition characterized by small, atrophic type 1 muscle fibers and normal or enlarged type 2 fibers.
2. Central core disease (CCD): a condition caused by mutations in the ryanodine receptor gene, which leads to the formation of abnormal structures called cores within the muscle fibers.
3. Nemaline myopathy: a condition characterized by the presence of rod-shaped structures called nemalines in the muscle fibers.
4. Myotubular myopathy: a condition caused by mutations in the myotubularin gene, which leads to abnormalities in the muscle fiber nuclei and weakened muscle function.
5. Congenital muscular dystrophy (CMD): a group of conditions characterized by muscle weakness, hypotonia, and joint contractures, often associated with structural abnormalities in the muscle membrane or extracellular matrix.
Diagnosis of congenital structural myopathies typically involves a combination of clinical evaluation, genetic testing, and muscle biopsy. Treatment is generally supportive and may include physical therapy, orthotics, and assistive devices to help manage symptoms and improve function. In some cases, medications or surgical interventions may be necessary to address specific complications.
Nemaline myopathy is a genetic muscle disorder characterized by the presence of rod-like structures called nemalines in the muscle fibers. These rods, which are composed of accumulated protein, can be observed under a microscope in biopsied muscle tissue. The condition is typically present at birth or appears in early childhood and is often associated with muscle weakness, hypotonia (low muscle tone), and delayed motor development.
There are several types of nemaline myopathy, which vary in severity and age of onset. Some individuals with the disorder may have only mild symptoms and be able to lead relatively normal lives, while others may experience significant disability and require assistance with daily activities. The condition can also affect the heart and respiratory muscles, leading to serious complications.
Nemaline myopathy is caused by mutations in one of several genes that are involved in the formation and maintenance of muscle fibers. These genetic defects lead to abnormalities in the structure and function of the muscle fibers, resulting in the characteristic symptoms of the disorder. There is currently no cure for nemaline myopathy, but treatment is focused on managing the symptoms and improving quality of life. This may include physical therapy, assistive devices, and respiratory support, as well as medications to help manage muscle spasticity and other complications.
Smooth muscle myocytes are specialized cells that make up the contractile portion of non-striated, or smooth, muscles. These muscles are found in various organs and structures throughout the body, including the walls of blood vessels, the digestive system, the respiratory system, and the reproductive system.
Smooth muscle myocytes are smaller than their striated counterparts (skeletal and cardiac muscle cells) and have a single nucleus. They lack the distinctive banding pattern seen in striated muscles and instead have a uniform appearance of actin and myosin filaments. Smooth muscle myocytes are controlled by the autonomic nervous system, which allows them to contract and relax involuntarily.
These cells play an essential role in many physiological processes, such as regulating blood flow, moving food through the digestive tract, and facilitating childbirth. They can also contribute to various pathological conditions, including hypertension, atherosclerosis, and gastrointestinal disorders.
Muscular diseases, also known as myopathies, refer to a group of conditions that affect the functionality and health of muscle tissue. These diseases can be inherited or acquired and may result from inflammation, infection, injury, or degenerative processes. They can cause symptoms such as weakness, stiffness, cramping, spasms, wasting, and loss of muscle function.
Examples of muscular diseases include:
1. Duchenne Muscular Dystrophy (DMD): A genetic disorder that results in progressive muscle weakness and degeneration due to a lack of dystrophin protein.
2. Myasthenia Gravis: An autoimmune disease that causes muscle weakness and fatigue, typically affecting the eyes and face, throat, and limbs.
3. Inclusion Body Myositis (IBM): A progressive muscle disorder characterized by muscle inflammation and wasting, typically affecting older adults.
4. Polymyositis: An inflammatory myopathy that causes muscle weakness and inflammation throughout the body.
5. Metabolic Myopathies: A group of inherited disorders that affect muscle metabolism, leading to exercise intolerance, muscle weakness, and other symptoms.
6. Muscular Dystonias: Involuntary muscle contractions and spasms that can cause abnormal postures or movements.
It is important to note that muscular diseases can have a significant impact on an individual's quality of life, mobility, and overall health. Proper diagnosis and treatment are crucial for managing symptoms and improving outcomes.
Mitochondria in muscle, also known as the "powerhouses" of the cell, are organelles that play a crucial role in generating energy for muscle cells through a process called cellular respiration. They convert the chemical energy found in glucose and oxygen into ATP (adenosine triphosphate), which is the main source of energy used by cells.
Muscle cells contain a high number of mitochondria due to their high energy demands for muscle contraction and relaxation. The number and size of mitochondria in muscle fibers can vary depending on the type of muscle fiber, with slow-twitch, aerobic fibers having more numerous and larger mitochondria than fast-twitch, anaerobic fibers.
Mitochondrial dysfunction has been linked to various muscle disorders, including mitochondrial myopathies, which are characterized by muscle weakness, exercise intolerance, and other symptoms related to impaired energy production in the muscle cells.
Muscle hypertonia is a term used to describe an increased tone or tension in the muscles, which can be caused by various medical conditions. This state leads to a reduced ability to stretch the muscle fully, and it may interfere with normal movement. The two main types of muscle hypertonia are spasticity and rigidity.
1. Spasticity: It is a velocity-dependent increase in muscle tone, which means that the resistance to passive movement increases as the speed of the movement increases. This type of hypertonia is often associated with upper motor neuron lesions, such as those caused by stroke, spinal cord injury, or multiple sclerosis.
2. Rigidity: It is a constant and non-velocity dependent increase in muscle tone, meaning that the resistance to passive movement remains consistent regardless of the speed. This type of hypertonia can be seen in conditions like Parkinson's disease.
It is essential to diagnose and manage muscle hypertonia effectively to prevent complications such as contractures, pain, and decreased functional abilities. Treatment options may include physical therapy, medications (like antispasticity agents), orthoses, or surgical interventions in severe cases.
Developmental disabilities are a group of conditions that arise in childhood and are characterized by significant impairments in cognitive functioning, physical development, or both. These disabilities can affect various areas of an individual's life, including their ability to learn, communicate, socialize, and take care of themselves.
Examples of developmental disabilities include intellectual disabilities, cerebral palsy, autism spectrum disorder, Down syndrome, and fetal alcohol spectrum disorders. These conditions are typically diagnosed in childhood and can persist throughout an individual's life.
The causes of developmental disabilities are varied and can include genetic factors, environmental influences, and complications during pregnancy or childbirth. In some cases, the exact cause may be unknown.
It is important to note that individuals with developmental disabilities have unique strengths and abilities, as well as challenges. With appropriate support and services, they can lead fulfilling lives and participate actively in their communities.
Neck muscles, also known as cervical muscles, are a group of muscles that provide movement, support, and stability to the neck region. They are responsible for various functions such as flexion, extension, rotation, and lateral bending of the head and neck. The main neck muscles include:
1. Sternocleidomastoid: This muscle is located on either side of the neck and is responsible for rotating and flexing the head. It also helps in tilting the head to the same side.
2. Trapezius: This large, flat muscle covers the back of the neck, shoulders, and upper back. It is involved in movements like shrugging the shoulders, rotating and extending the head, and stabilizing the scapula (shoulder blade).
3. Scalenes: These three pairs of muscles are located on the side of the neck and assist in flexing, rotating, and laterally bending the neck. They also help with breathing by elevating the first two ribs during inspiration.
4. Suboccipitals: These four small muscles are located at the base of the skull and are responsible for fine movements of the head, such as tilting and rotating.
5. Longus Colli and Longus Capitis: These muscles are deep neck flexors that help with flexing the head and neck forward.
6. Splenius Capitis and Splenius Cervicis: These muscles are located at the back of the neck and assist in extending, rotating, and laterally bending the head and neck.
7. Levator Scapulae: This muscle is located at the side and back of the neck, connecting the cervical vertebrae to the scapula. It helps with rotation, extension, and elevation of the head and scapula.
The oculomotor muscles are a group of extraocular muscles that control the movements of the eye. They include:
1. Superior rectus: This muscle is responsible for elevating the eye and helping with inward rotation (intorsion) when looking downwards.
2. Inferior rectus: It depresses the eye and helps with outward rotation (extorsion) when looking upwards.
3. Medial rectus: This muscle adducts, or moves, the eye towards the midline of the face.
4. Inferior oblique: The inferior oblique muscle intorts and elevates the eye.
5. Superior oblique: It extorts and depresses the eye.
These muscles work together to allow for smooth and precise movements of the eyes, enabling tasks such as tracking moving objects, reading, and maintaining visual fixation on a single point in space.
Microcephaly is a medical condition where an individual has a smaller than average head size. The circumference of the head is significantly below the normal range for age and sex. This condition is typically caused by abnormal brain development, which can be due to genetic factors or environmental influences such as infections or exposure to harmful substances during pregnancy.
Microcephaly can be present at birth (congenital) or develop in the first few years of life. People with microcephaly often have intellectual disabilities, delayed development, and other neurological problems. However, the severity of these issues can vary widely, ranging from mild to severe. It is important to note that not all individuals with microcephaly will experience significant impairments or challenges.
Ataxia is a medical term that refers to a group of disorders affecting coordination, balance, and speech. It is characterized by a lack of muscle control during voluntary movements, causing unsteady or awkward movements, and often accompanied by tremors. Ataxia can affect various parts of the body, such as the limbs, trunk, eyes, and speech muscles. The condition can be congenital or acquired, and it can result from damage to the cerebellum, spinal cord, or sensory nerves. There are several types of ataxia, including hereditary ataxias, degenerative ataxias, cerebellar ataxias, and acquired ataxias, each with its own specific causes, symptoms, and prognosis. Treatment for ataxia typically focuses on managing symptoms and improving quality of life, as there is no cure for most forms of the disorder.
Striated muscle, also known as skeletal or voluntary muscle, is a type of muscle tissue that is characterized by the presence of distinct light and dark bands, or striations, when viewed under a microscope. These striations correspond to the arrangement of sarcomeres, which are the functional units of muscle fibers.
Striated muscle is under voluntary control, meaning that it is consciously activated by signals from the nervous system. It is attached to bones via tendons and is responsible for producing movements of the body. Striated muscle fibers are multinucleated, meaning that they contain many nuclei, and are composed of numerous myofibrils, which are rope-like structures that run the length of the fiber.
The myofibrils are composed of thick and thin filaments that slide past each other to cause muscle contraction. The thick filaments are made up of the protein myosin, while the thin filaments are composed of actin, tropomyosin, and troponin. When a nerve impulse arrives at the muscle fiber, it triggers the release of calcium ions from the sarcoplasmic reticulum, which bind to troponin and cause a conformational change that exposes the binding sites on actin for myosin. The myosin heads then bind to the actin filaments and pull them towards the center of the sarcomere, causing the muscle fiber to shorten and contract.
Muscle spindles are specialized sensory organs found within the muscle belly, which primarily function as proprioceptors, providing information about the length and rate of change in muscle length. They consist of small, encapsulated bundles of intrafusal muscle fibers that are interspersed among the extrafusal muscle fibers (the ones responsible for force generation).
Muscle spindles have two types of sensory receptors called primary and secondary endings. Primary endings are located near the equatorial region of the intrafusal fiber, while secondary endings are situated more distally. These endings detect changes in muscle length and transmit this information to the central nervous system (CNS) through afferent nerve fibers.
The activation of muscle spindles plays a crucial role in reflexive responses, such as the stretch reflex (myotatic reflex), which helps maintain muscle tone and joint stability. Additionally, they contribute to our sense of body position and movement awareness, known as kinesthesia.
Electromyography (EMG) is a medical diagnostic procedure that measures the electrical activity of skeletal muscles during contraction and at rest. It involves inserting a thin needle electrode into the muscle to record the electrical signals generated by the muscle fibers. These signals are then displayed on an oscilloscope and may be heard through a speaker.
EMG can help diagnose various neuromuscular disorders, such as muscle weakness, numbness, or pain, and can distinguish between muscle and nerve disorders. It is often used in conjunction with other diagnostic tests, such as nerve conduction studies, to provide a comprehensive evaluation of the nervous system.
EMG is typically performed by a neurologist or a physiatrist, and the procedure may cause some discomfort or pain, although this is usually minimal. The results of an EMG can help guide treatment decisions and monitor the progression of neuromuscular conditions over time.
Muscle relaxation, in a medical context, refers to the process of reducing tension and promoting relaxation in the skeletal muscles. This can be achieved through various techniques, including progressive muscle relaxation (PMR), where individuals consciously tense and then release specific muscle groups in a systematic manner.
PMR has been shown to help reduce anxiety, stress, and muscle tightness, and improve overall well-being. It is often used as a complementary therapy in conjunction with other treatments for conditions such as chronic pain, headaches, and insomnia.
Additionally, muscle relaxation can also be facilitated through pharmacological interventions, such as the use of muscle relaxant medications. These drugs work by inhibiting the transmission of signals between nerves and muscles, leading to a reduction in muscle tone and spasticity. They are commonly used to treat conditions such as multiple sclerosis, cerebral palsy, and spinal cord injuries.
Respiratory muscles are a group of muscles involved in the process of breathing. They include the diaphragm, intercostal muscles (located between the ribs), scalene muscles (located in the neck), and abdominal muscles. These muscles work together to allow the chest cavity to expand or contract, which draws air into or pushes it out of the lungs. The diaphragm is the primary muscle responsible for breathing, contracting to increase the volume of the chest cavity and draw air into the lungs during inhalation. The intercostal muscles help to further expand the ribcage, while the abdominal muscles assist in exhaling by compressing the abdomen and pushing up on the diaphragm.
Muscle weakness is a condition in which muscles cannot develop the expected level of physical force or power. This results in reduced muscle function and can be caused by various factors, including nerve damage, muscle diseases, or hormonal imbalances. Muscle weakness may manifest as difficulty lifting objects, maintaining posture, or performing daily activities. It is essential to consult a healthcare professional for proper diagnosis and treatment of muscle weakness.
Papillary muscles are specialized muscle structures located in the heart, specifically in the ventricles (the lower chambers of the heart). They are attached to the tricuspid and mitral valves' leaflets via tendinous cords, also known as chordae tendineae. The main function of papillary muscles is to prevent the backflow of blood during contraction by providing tension to the valve leaflets through these tendinous cords.
There are two sets of papillary muscles in the heart:
1. Anterior and posterior papillary muscles in the left ventricle, which are attached to the mitral (bicuspid) valve.
2. Three smaller papillary muscles in the right ventricle, which are attached to the tricuspid valve.
These muscle structures play a crucial role in maintaining proper blood flow through the heart and ensuring efficient cardiac function.
Central core myopathy is a rare genetic muscle disorder that is typically present at birth or appears in early childhood. It is characterized by the presence of distinctive rod-like structures, called cores, in the center of the muscle fibers. These cores are devoid of normal mitochondria and other organelles, which can lead to muscle weakness and wasting.
Central core myopathy is often associated with mutations in the ryanodine receptor 1 (RYR1) gene, which provides instructions for making a protein that plays a critical role in calcium signaling within muscles. Abnormalities in calcium signaling can lead to muscle weakness and wasting.
The symptoms of central core myopathy can vary widely, even among members of the same family with the same genetic mutation. Some people with this condition may have only mild muscle weakness, while others may be severely affected and have difficulty walking or performing other physical activities. The condition typically does not worsen over time, and life expectancy is usually normal. However, some people with central core myopathy may be at increased risk of malignant hyperthermia, a potentially life-threatening reaction to certain anesthetics.
A chromosome is a thread-like structure that contains genetic material, made up of DNA and proteins, in the nucleus of a cell. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each cell of the body, with the exception of the sperm and egg cells which contain only 23 chromosomes.
The X chromosome is one of the two sex-determining chromosomes in humans. Females typically have two X chromosomes (XX), while males have one X and one Y chromosome (XY). The X chromosome contains hundreds of genes that are responsible for various functions in the body, including some related to sexual development and reproduction.
Humans inherit one X chromosome from their mother and either an X or a Y chromosome from their father. In females, one of the two X chromosomes is randomly inactivated during embryonic development, resulting in each cell having only one active X chromosome. This process, known as X-inactivation, helps to ensure that females have roughly equal levels of gene expression from the X chromosome, despite having two copies.
Abnormalities in the number or structure of the X chromosome can lead to various genetic disorders, such as Turner syndrome (X0), Klinefelter syndrome (XXY), and fragile X syndrome (an X-linked disorder caused by a mutation in the FMR1 gene).
A chromosome deletion is a type of genetic abnormality that occurs when a portion of a chromosome is missing or deleted. Chromosomes are thread-like structures located in the nucleus of cells that contain our genetic material, which is organized into genes.
Chromosome deletions can occur spontaneously during the formation of reproductive cells (eggs or sperm) or can be inherited from a parent. They can affect any chromosome and can vary in size, from a small segment to a large portion of the chromosome.
The severity of the symptoms associated with a chromosome deletion depends on the size and location of the deleted segment. In some cases, the deletion may be so small that it does not cause any noticeable symptoms. However, larger deletions can lead to developmental delays, intellectual disabilities, physical abnormalities, and various medical conditions.
Chromosome deletions are typically detected through a genetic test called karyotyping, which involves analyzing the number and structure of an individual's chromosomes. Other more precise tests, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA), may also be used to confirm the diagnosis and identify the specific location and size of the deletion.
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect connective tissues, which are the proteins and chemicals in the body that provide structure and support for skin, bones, blood vessels, and other organs. People with EDS have stretching (elastic) skin and joints that are too loose (hypermobile). There are several types of EDS, each with its own set of symptoms and level of severity. Some of the more common types include:
* Classical EDS: This type is characterized by skin that can be stretched far beyond normal and bruises easily. Affected individuals may also have joints that dislocate easily.
* Hypermobile EDS: This type is marked by joint hypermobility, which can lead to frequent dislocations and subluxations (partial dislocations). Some people with this type of EDS also have Marfan syndrome-like features, such as long fingers and a curved spine.
* Vascular EDS: This type is caused by changes in the COL3A1 gene and is characterized by thin, fragile skin that tears or bruises easily. People with vascular EDS are at risk of serious complications, such as arterial rupture and organ perforation.
* Kyphoscoliosis EDS: This type is marked by severe kyphoscoliosis (a forward curvature of the spine) and joint laxity. Affected individuals may also have fragile skin that tears or bruises easily.
EDS is typically inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the altered gene from either parent to develop the condition. However, some types of EDS are inherited in an autosomal recessive manner, which means that a person must inherit two copies of the altered gene (one from each parent) to develop the condition.
There is no cure for EDS, and treatment is focused on managing symptoms and preventing complications. This may include physical therapy to strengthen muscles and improve joint stability, bracing to support joints, and surgery to repair damaged tissues or organs.
Connective tissue diseases (CTDs) are a group of disorders that involve the abnormal production and accumulation of abnormal connective tissues in various parts of the body. Connective tissues are the structural materials that support and bind other tissues and organs together. They include tendons, ligaments, cartilage, fat, and the material that fills the spaces between cells, called the extracellular matrix.
Connective tissue diseases can affect many different systems in the body, including the skin, joints, muscles, lungs, kidneys, gastrointestinal tract, and blood vessels. Some CTDs are autoimmune disorders, meaning that the immune system mistakenly attacks healthy connective tissues. Others may be caused by genetic mutations or environmental factors.
Some examples of connective tissue diseases include:
* Systemic lupus erythematosus (SLE)
* Rheumatoid arthritis (RA)
* Scleroderma
* Dermatomyositis/Polymyositis
* Mixed Connective Tissue Disease (MCTD)
* Sjogren's syndrome
* Ehlers-Danlos syndrome
* Marfan syndrome
* Osteogenesis imperfecta
The specific symptoms and treatment of connective tissue diseases vary depending on the type and severity of the condition. Treatment may include medications to reduce inflammation, suppress the immune system, or manage pain. In some cases, surgery may be necessary to repair or replace damaged tissues or organs.
Collagen is the most abundant protein in the human body, and it is a major component of connective tissues such as tendons, ligaments, skin, and bones. Collagen provides structure and strength to these tissues and helps them to withstand stretching and tension. It is made up of long chains of amino acids, primarily glycine, proline, and hydroxyproline, which are arranged in a triple helix structure. There are at least 16 different types of collagen found in the body, each with slightly different structures and functions. Collagen is important for maintaining the integrity and health of tissues throughout the body, and it has been studied for its potential therapeutic uses in various medical conditions.
Collagen Type III, also known as Collagen III Alpha 1 (COL3A1), is a type of collagen that is found in various connective tissues throughout the body. It is a fibrillar collagen that is produced by fibroblasts and is a major component of reticular fibers, which provide structural support to organs such as the liver, spleen, and lymph nodes. Collagen Type III is also found in the walls of blood vessels, the skin, and the intestinal tract.
Mutations in the COL3A1 gene can lead to a rare genetic disorder called Ehlers-Danlos syndrome type IV, which is characterized by fragile and elastic skin, easy bruising, and spontaneous rupture of blood vessels. Collagen Type III has been studied for its potential role in various other medical conditions, including fibrosis, cancer, and cardiovascular disease.
Connective tissue is a type of biological tissue that provides support, strength, and protection to various structures in the body. It is composed of cells called fibroblasts, which produce extracellular matrix components such as collagen, elastin, and proteoglycans. These components give connective tissue its unique properties, including tensile strength, elasticity, and resistance to compression.
There are several types of connective tissue in the body, each with its own specific functions and characteristics. Some examples include:
1. Loose or Areolar Connective Tissue: This type of connective tissue is found throughout the body and provides cushioning and support to organs and other structures. It contains a large amount of ground substance, which allows for the movement and gliding of adjacent tissues.
2. Dense Connective Tissue: This type of connective tissue has a higher concentration of collagen fibers than loose connective tissue, making it stronger and less flexible. Dense connective tissue can be further divided into two categories: regular (or parallel) and irregular. Regular dense connective tissue, such as tendons and ligaments, has collagen fibers that run parallel to each other, providing great tensile strength. Irregular dense connective tissue, such as the dermis of the skin, has collagen fibers arranged in a more haphazard pattern, providing support and flexibility.
3. Adipose Tissue: This type of connective tissue is primarily composed of fat cells called adipocytes. Adipose tissue serves as an energy storage reservoir and provides insulation and cushioning to the body.
4. Cartilage: A firm, flexible type of connective tissue that contains chondrocytes within a matrix of collagen and proteoglycans. Cartilage is found in various parts of the body, including the joints, nose, ears, and trachea.
5. Bone: A specialized form of connective tissue that consists of an organic matrix (mainly collagen) and an inorganic mineral component (hydroxyapatite). Bone provides structural support to the body and serves as a reservoir for calcium and phosphate ions.
6. Blood: Although not traditionally considered connective tissue, blood does contain elements of connective tissue, such as plasma proteins and leukocytes (white blood cells). Blood transports nutrients, oxygen, hormones, and waste products throughout the body.
Collagen Type V is a specific type of collagen, which is a protein that provides structure and strength to connective tissues in the body. Collagen Type V is found in various tissues, including the cornea, blood vessels, and hair. It plays a crucial role in the formation of collagen fibers and helps regulate the diameter of collagen fibrils. Mutations in the genes that encode for Collagen Type V can lead to various connective tissue disorders, such as Ehlers-Danlos syndrome and osteogenesis imperfecta.
Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase is an enzyme that plays a crucial role in the biosynthesis of collagen. The medical definition of this enzyme is:
"An enzyme that catalyzes the post-translational modification of specific lysine residues in procollagens and related proteins. This enzyme requires Fe2+, 2-oxoglutarate, molecular oxygen, and ascorbic acid as cofactors. It hydroxylates certain lysine residues to form hydroxylysine, which is essential for the stabilization of collagen triple helices and for the formation of covalent cross-links between individual collagen molecules. Mutations in this gene have been associated with several types of Ehlers-Danlos syndrome."
The systematic name for this enzyme is "procollagen-lysine, 2-oxoglutarate 5-dioxygenase (hydroxylating)." It is also known as "procollagen-lysine, lysine hydroxylase," or simply "LH." This enzyme is responsible for the hydroxylation of specific lysine residues in procollagens and related proteins during their biosynthesis. The hydroxylation reaction catalyzed by this enzyme involves the incorporation of a hydroxyl group (-OH) into the lysine side chain, resulting in the formation of hydroxylysine. This modification is essential for the proper folding and stabilization of collagen molecules, as well as for their subsequent cross-linking and assembly into extracellular matrix structures.
Defects or mutations in the gene encoding this enzyme can lead to various types of Ehlers-Danlos syndrome (EDS), a group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
Arts syndrome
Developmental coordination disorder
Spinocerebellar ataxia type 1
Paratonia
Tracheomalacia
Trachealis muscle
Sengers syndrome
PMM2 deficiency
Biotinidase deficiency
Johanson-Blizzard syndrome
Flaccid dysarthria
Hyperkinesia
Gómez-López-Hernández syndrome
Dopamine beta hydroxylase deficiency
Fetal warfarin syndrome
Spinal cord
Miller-Dieker syndrome
IDH2
Propionic acidemia
Pyruvate carboxylase deficiency
Lissencephaly
Snyder-Robinson syndrome
Isodicentric 15
Maickel Melamed
Infantile Refsum disease
Lower motor neuron lesion
ACADSB
Börjeson-Forssman-Lehmann syndrome
Congenital myopathy
Douglas Reye
Low muscle tone or hypotonia
Low muscle tone genetic causes, understanding hypotonia
Hypotonia: MedlinePlus Medical Encyclopedia
Muscles, Movement, and Hypotonia: What Parents Should Know - Jodi Gilray Pediatric Therapy
Arts syndrome - Wikipedia
Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up
Genetics of Ehlers-Danlos Syndrome: Practice Essentials, Pathophysiology, Epidemiology
Coffin-Lowry Syndrome | National Institute of Neurological Disorders and Stroke
Genetics of Ehlers-Danlos Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations
Rett Syndrome | National Institute of Neurological Disorders and Stroke
Follow-up in children with Joubert syndrome
Succinic Semialdehyde Dehydrogenase Deficiency - Symptoms, Causes, Treatment | NORD
What conditions or disorders are commonly associated with Down syndrome? | NICHD - Eunice Kennedy Shriver National Institute of...
Cerebral Palsy in Children - HealthyChildren.org
Lucia - Total Education Solutions
When To Seek Pediatric Counseling for Your Child - TES
Hypotonia - London Health
Vigadrone (Vigabatrin for Oral Solution): Uses, Dosage, Side Effects, Interactions, Warning
Trichorhinophalangeal syndrome type 2 - About the Disease - Genetic and Rare Diseases Information Center
Conditions | Florida Department of Health
Low Muscle Tone Children | BabyCenter
Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy | Pediatric Research
Farah & McColgan Encourage Athletes to 'BEE' Their Greatest - Great Run
Down's Syndrome | Intellectual Disability and Health
Down Syndrome | Boston Children's Hospital
2q37 deletion syndrome: MedlinePlus Genetics
Is a Gynandromorph a chimera? - Questions & Answers
Wolf-Hirschhorn Syndrome: Practice Essentials, Pathophysiology, Epidemiology
Cerebral Palsy: Causes, Symptoms, and Treatment Explained
Tone42
- Children with low muscle tone may present with poor posture, rapid fatigue, delayed motor skills, muscle weakness, and/or coordination problems. (potsot.com)
- Symptoms relating to the muscles may affect their function and tone. (fdna.health)
- Hypotonia, or low muscle tone as it is often known, reduces the strength and tone of the muscle. (fdna.health)
- In some instances low muscle tone may be one of the features of a rare disease or genetic syndrome. (fdna.health)
- Hypotonia means decreased muscle tone. (medlineplus.gov)
- Kiddos who deal with hypotonia, or low muscle tone, face difficulties with everyday movements. (prescottpediatrictherapy.com)
- It may sound like a big word, but it really just refers to low muscle tone. (prescottpediatrictherapy.com)
- Muscle weakness refers to the strength of a muscle while muscle tone is tension and stiffness as the muscles resist movement. (prescottpediatrictherapy.com)
- A child with low muscle tone would appear "floppy" or limp when you picked them up, unlike a child who only has weakened muscles. (prescottpediatrictherapy.com)
- With low muscle tone, it can become much harder to execute day-to-day movements. (prescottpediatrictherapy.com)
- As we mentioned, low muscle tone can also make your kiddo appear "floppy," or limp. (prescottpediatrictherapy.com)
- We're here if you're noticing low muscle tone with your little one. (prescottpediatrictherapy.com)
- Weak muscle tone - Hypotonia. (wikipedia.org)
- Recommend low-resistance exercise for patients with EDS to help increase muscle tone and stabilize loose joints. (medscape.com)
- In addition, in some people, initial findings may include diminished muscle tone (hypotonia), an impaired ability to coordinate voluntary movements (ataxia), and/or episodes of uncontrolled electrical activity in the brain (seizures). (rarediseases.org)
- Spasticity is increased muscle tone. (healthychildren.org)
- Hypotonia, also known as floppy infant syndrome or floppy baby syndrome, is a condition characterized by low muscle tone and muscle strength. (tesidea.com)
- it enables patients to gradually increase their muscle tone and the range of movement around their joints. (londonhealth.co.uk)
- Cerebral palsy is a group of disorders that affect movement and muscle tone or posture. (floridahealth.gov)
- Chloe is 19 months and is low muscle tone and not walking yet. (babycenter.com)
- He has low muscle tone and he is also below average on gross motor skills. (babycenter.com)
- My name is Sarah and my 14 month old son Chance has low muscle tone. (babycenter.com)
- can low muscle tone children live normal life? (babycenter.com)
- 16 month old Boy with Hypotonia-Low muscle tone. (babycenter.com)
- He was diagnosed with Hypotonia-Low muscle tone at 7 months. (babycenter.com)
- I finally looked it up and saw that there is a link between low muscle tone and gastro issues. (babycenter.com)
- learning difficulties and decreased muscle tone (hypotonia). (greatrun.org)
- His muscle tone is very poor which makes it very hard for him to exercise and keep up. (greatrun.org)
- Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. (medlineplus.gov)
- Spastic diplegia - motor disorders are presented by tetra paresis, but the tone of muscles is changed not by the rigidity type, but by spasticity. (topwritingservice.com)
- Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), a weak suck and feeding difficulties with poor weight gain and growth and other hormone deficiency. (rarediseases.org)
- Initially, infants will exhibit diminished muscle tone (hypotonia), which can cause a baby to feel "floppy" when held. (rarediseases.org)
- The combination of ligamentous laxity and low muscle tone contributes to increased risk of a number of musculoskeletal disorders and a delay in acquisition of motor milestones. (bmj.com)
- Affected individuals may also have seizures, an unusually small head size ( microcephaly ), or weak muscle tone (hypotonia). (nih.gov)
- With the change of state from wakefulness to sleep, muscle activity and tone decrease, and they are lost completely during rapid eye movement (REM) sleep. (psychiatrictimes.com)
- The patient manifested low muscle tone and weak sucking upon birth, and was still unable to raise her head and turn over her body at 4 months of age. (frontiersin.org)
- Several children have difficulty enunciating because of low muscle tone/weak vocal chords. (ctmuseumquest.com)
- Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive). (medlineplus.gov)
- Symptoms that may appear are fatigue, apathy or hypotonia (poor muscle tone). (digitalnaturopath.com)
- BRUE (brief, resolved, unexplained event) is an episode of cyanosis or pallor, abnormal breathing, abnormal muscle tone, or altered responsiveness in infants. (msdmanuals.com)
- Some infants have a transient event involving some combination of altered respiration, consciousness, muscle tone, and/or skin color. (msdmanuals.com)
- As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to breathing and kidney problems. (msdmanuals.com)
Weakness12
- Marcdante KJ, Kliegman RM, Schuch AM. Weakness and hypotonia. (medlineplus.gov)
- Try not to get it confused with muscle weakness, although both can exist at the same time. (prescottpediatrictherapy.com)
- Muscle weakness caused by recurrent infections. (wikipedia.org)
- citation needed] Arts syndrome should be included in the differential diagnosis of infantile hypotonia and weakness aggravated by recurrent infection with a family history of X-linked inheritance. (wikipedia.org)
- Hypotonia is different from muscle weakness, which is also common in some children with cerebral palsy. (healthychildren.org)
- We describe a Portuguese boy of consanguineous parents who developed progressive muscle weakness at 2.5 y of age, followed by severe metabolic decompensation with hypoglycaemia and coma triggered by a viral infection. (nature.com)
- In most cases, the first noticeable symptom is weakness of the eye muscles. (doctorbhatia.com)
- The degree of muscle weakness involved in MG varies greatly among patients, ranging from a localized form, limited to eye muscles (ocular myasthenia), to a severe or generalized form in which many muscles - sometimes including those that control breathing - are affected. (doctorbhatia.com)
- SMA is a leading genetic cause of infant death, and if left untreated, it can lead to progressive muscle weakness, paralysis, and in one of its most severe forms, permanent ventilation, or death in 90% of cases by the age of 2. (reachmd.com)
- Some people also have heart problems or muscle symptoms (such as involuntary muscle contractions, muscle weakness, or muscle spasms). (msdmanuals.com)
- Patients with adult-onset glycogen-storage disease type II typically present with proximal muscle weakness between the second and sixth decades of life. (medscape.com)
- Storage in skeletal muscle leads to hypotonia and weakness. (medscape.com)
Symptoms2
- Symptoms affecting the muscles can not for the most part be seen with the naked eye. (fdna.health)
- Most of the conditions associated with hypotonia also cause other symptoms that can help in the diagnosis. (medlineplus.gov)
Severe4
- Infantile hypotonia, which is often severe, is a near universal feature of the disorder. (rarediseases.org)
- A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. (orpha.net)
- Early-onset profound developmental delay, progressive microcephaly, and hypotonia that develops toward severe spasticity have been previously reported with SEPSECS mutations. (frontiersin.org)
- Clinical examination revealed left esotropia, severe muscle hypotonia, and decreased deep tendon reflexes, particularly with respect to both her lower limbs. (frontiersin.org)
Ataxia1
- Impaired muscle coordination - Ataxia. (wikipedia.org)
Microcephaly1
- Although harboring different mutant alleles, patients presented remarkably similar phenotypes typified by an autosomal recessive progressive microcephaly with profound developmental delay, progressive brain atrophy, and hypotonia ( 6 , 7 , 9 ). (frontiersin.org)
Movements4
- hand trembling or involuntary muscle movements. (winetourismday.org)
- Brain sites, which control the movements of muscles, are especially vulnerable to the damage in premature born children and the children of the first year of life. (topwritingservice.com)
- Hypotonia can be present before birth (prenatally) potentially causing decreased fetal movements and abnormal positioning of the fetus (e.g., breech position). (rarediseases.org)
- The muscles that control breathing and neck and limb movements can also be affected. (doctorbhatia.com)
Disorders2
- Cerebral palsy is the state, characterized by the insufficient control of muscles, muscular spasticity, paralyzes and other neurologic disorders, which compose the consequence of a brain injury arising during pregnancy, childbirth or at younger children age. (topwritingservice.com)
- This, combined with hypotonia, also a well-described feature of DS, has significant and widespread functional impact, and contributes to increased risk of a number of musculoskeletal disorders, a delay in acquisition of motor milestones and lower levels of physical activity in children with DS. (bmj.com)
Help Strengthen Muscles1
- [4] Physical therapy and bracing may help strengthen muscles and support joints. (wikipedia.org)
Skeletal1
- The muscular system contains three muscle types: cardiac, smooth and skeletal. (fdna.health)
Responsiveness1
- After birth, hypotonia is associated with lethargy, a weak cry, poor responsiveness to stimuli and poor reflexes including poor sucking ability, which result in feeding difficulties and failure to thrive. (rarediseases.org)
Floppy2
- Lack of adequate tension in the resting muscle, often resulting in muscles that seem loose or floppy. (potsot.com)
- this can affect movement and change the physical appearance of the affected limb (affected muscles usually look very floppy and limp). (londonhealth.co.uk)
Symptom4
- Diagnosing a muscle related symptom may involve different tests and assessments, both subjective and objective. (fdna.health)
- Keep in mind that hypotonia is a symptom of an underlying condition such as cerebral palsy or premature birth . (prescottpediatrictherapy.com)
- Professionals may not always be able to "cure" hypotonia, but the symptom can greatly improve, allowing your kiddo to have a much higher quality of life. (prescottpediatrictherapy.com)
- Hypotonia is usually a symptom of another health condition. (londonhealth.co.uk)
Difficulties1
- Patients suffer from hypotonia with muscle underdevelopment, possibly causing frequent feeding difficulties and failure to thrive. (orpha.net)
Cerebral palsy3
- Hypotonia/cerebral Palsy/stroke? (babycenter.com)
- This is why people with cerebral palsy cannot control their muscles very well, they may move jerkily or hold themselves awkwardly. (enableireland.ie)
- Therapy and special aids can help someone with cerebral palsy to control the movement of their muscles and maximise their ability to move. (enableireland.ie)
Classification1
- The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome. (cdc.gov)
Floppiness1
- This may appear as floppiness in the muscles. (healthychildren.org)
Developmental delay1
- and body tempera- based on the presence of leukocytosis, ative bacteraemia as a complication ture 36.4 °C. Neurological examina- thrombocytopaenia, metabolic acido- of rotavirus-associated gastroenteritis tion showed developmental delay, mild sis, increased serum CRP level, pro- has been reported in healthy children hypotonia and increased leg muscle longed PT, PTT and increased level of (2) . (who.int)
Patients1
- In patients whose respiratory muscles are already weak, crises may be triggered by infection, fever, an adverse reaction to medication, or emotional stress. (doctorbhatia.com)
Affects2
- Sebastian has an undiagnosed condition, however this has resulted in him having hypotonia which affects his muscles. (newlifecharity.co.uk)
- This results in the progressive and irreversible loss of motor neurons, which affects muscle function, including breathing, swallowing, and basic movement. (reachmd.com)
Coordination1
- A physical therapist will focus on improving posture, coordination, and strengthening surrounding muscles with specific exercises. (prescottpediatrictherapy.com)
Newborn1
- Be aware that significant joint laxity present in the newborn period may be mistaken for hypotonia, resulting in a misdirected diagnostic evaluation. (medscape.com)
Nerves1
- It may also be caused by damage to the brain, spine or any of the nerves and muscles of the body. (fdna.health)
Cardiac1
- Treatment was seen in the gluteus maximus and delc is primarily focused on the cardiac disease, toid muscles. (who.int)
Bone1
- In general, people with this variant have skin that is soft, smooth, and velvety and bruises easily, and may have chronic muscle and/or bone pain. (wikipedia.org)
Head1
- Children with hypotonia may have trouble sitting up or holding up their head. (healthychildren.org)
Respiratory2
- In myasthenic crisis a paralysis of the respiratory muscles occurs, necessitating assisted ventilation to sustain life. (doctorbhatia.com)
- The respiratory muscles are also affected, resulting in hypoventilation and progressive respiratory compromise. (medscape.com)
Syndrome2
- Hypotonia may be the result of a genetic syndrome. (fdna.health)
- Hypotonia is a well-described feature of Down syndrome. (bmj.com)
Tension1
- Fun fact: Muscles hold a certain amount of tension, even at rest. (prescottpediatrictherapy.com)
Infection1
- If hypotonia has been caused as a result of an infection or injury, this will be identified and treated as quickly as possible. (londonhealth.co.uk)
Posture1
- What's more, it can be challenging for them to keep knees and elbows bent, maintain a straight posture, and get their muscles moving effectively. (prescottpediatrictherapy.com)
Birth1
- Hypotonia may be congenital (meaning people are born with condition) or acquired (meaning that people develop it after birth). (londonhealth.co.uk)
Joints1
- Muscle strength grading smaller joints [ 6 ]. (who.int)
Include1
- The physical exam will include a detailed examination of the nervous system and muscle function. (medlineplus.gov)
Condition1
- Generally, therapists will step in to improve and support muscle function once the underlying condition has been identified. (prescottpediatrictherapy.com)