Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS).
An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)
A type of juvenile osteochondrosis affecting the fibrocartilaginous disc (INTERVERTEBRAL DISC) in the thoracic or thoracolumbar region of the SPINE. It is characterized by a forward concave SPINAL CURVATURE or KYPHOSIS.
A genus of livebearing cyprinodont fish comprising the guppy and molly. Some species are virtually all female and depend on sperm from other species to stimulate egg development. Poecilia is used in carcinogenicity studies as well as neurologic and physiologic research.
The spinal or vertebral column.
Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback.
A cylindrical column of tissue that lies within the vertebral canal. It is composed of WHITE MATTER and GRAY MATTER.
The position or attitude of the body.
Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.).
Introduction of therapeutic agents into the spinal region using a needle and syringe.
NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)
A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.
A complex of proteins that assemble the SNRNP CORE PROTEINS into a core structure that surrounds a highly conserved RNA sequence found in SMALL NUCLEAR RNA. They are found localized in the GEMINI OF COILED BODIES and in the CYTOPLASM. The SMN complex is named after the Survival of Motor Neuron Complex Protein 1, which is a critical component of the complex.
A SMN complex protein that is closely-related to SURVIVAL OF MOTOR NEURON 1 PROTEIN. In humans, the protein is encoded by an often duplicated gene found near the inversion centromere of a large inverted region of CHROMOSOME 5.

Multiple fish vertebra deformity in child with systemic lupus erythematosus: a case report. (1/83)

We report an 11-year-old female patient with multiple fish vertebra deformity, which occurred in the course of treatment with corticosteroids for systemic lupus erythematosus (SLE). She was treated for SLE with predonisolone (30 mg per day) from April 2, 1996, and presented at our outpatient clinic for an osteoporosis check-up on April 27. She was 132 cm tall with-1.7 standard deviation of the average height, and X-ray examination revealed no evidence of osteoporosis in the spine. Bone mineral density (BMD) was 74.7% of the average BMD. Subsequently, she grew to 136 cm in September. However she began to have low back pain (LBP) from November, and received alfacalcidol. LBP deteriorated after pulse therapy with methylpredonisolone. In June 1997, X-ray examination revealed multiple fish vertebra deformity with 58.3% of the average BMD. Moreover her height had decreased to 131cm. She underwent combination therapy with elcatonin and alfacalcidol. In September 1999, she had no LBP nor progression of fish vertebra deformity. However she had no growth in height. Corticoseroids and SLE have multiple effects on bone metabolism, making the treatment of porosis complicated and difficult.  (+info)

Anterior thoracoscopic surgery followed by posterior instrumentation and fusion in spinal deformity. (2/83)

Many authors believe thoracoscopic surgery is associated with a lower level of morbidity compared to thoracotomy, for anterior release or growth arrest in spinal deformity. Others believe that anterior release achieved thoracoscopically is not as effective as that achieved with the open procedure. We evaluated the clinical results, radiological correction and morbidity following anterior thoracoscopic surgery followed by posterior instrumentation and fusion, to see whether there is any evidence for either of these beliefs. Twenty-nine patients undergoing thoracoscopic anterior release or growth arrest followed by posterior fusion and instrumentation were evaluated from a clinical and radiological viewpoint. The mean follow-up was 2 years (range 1-4 years). The average age was 16 years (range 5-26 years). The following diagnoses were present: idiopathic scoliosis (n = 17), neuromuscular scoliosis (n = 2), congenital scoliosis (n = 1), thoracic hyperkyphosis (n = 9). All patients were satisfied with cosmesis following surgery. Twenty scoliosis patients had a mean preoperative Cobb angle of 65.1 degrees (range 42 degrees-94 degrees) for the major curve, with an average flexibility of 34.5% (42.7 degrees). Post operative correction to 31.5 degrees (50.9%) and 34.4 degrees (47.1%) at maximal follow-up was noted. For nine patients with thoracic hyperkyphosis, the Cobb angle averaged 81 degrees (range 65 degrees-96 degrees), with hyperextension films showing an average correction to 65 degrees. Postoperative correction to an average of 58.6 degrees was maintained at 59.5 degrees at maximal follow-up. The average number of released levels was 5.1 (range 3-7) and the average duration of the thoracoscopic procedure was 188 min (range 120-280 min). There was a decrease in this length of time as the series progressed. No neurologic or vascular complications occurred. Postoperative complications included four recurrent pneumothoraces, one surgical emphysema, and one respiratory infection. Thoracoscopic anterior surgery appears a safe and effective technique for the treatment of paediatric and adolescent spinal deformity. A randomised controlled trial, comparing open with thoracoscopic methods, is required.  (+info)

Augmentation of (pedicle) screws with calcium apatite cement in patients with severe progressive osteoporotic spinal deformities: an innovative technique. (3/83)

Screw augmentation with calcium apatite cement (CAC) was used in seven patients with a progressive osteoporotic spinal deformity. Thirty-nine spinal segments (64 screws) were augmented: 15 anteriorly (three patients) and 24 posteriorly (five patients). Dorsally, hemilaminectomy was performed at the level of all augmented screws to rule out CAC leakage. Autogenous bone graft was applied in all patients to induce fusion. Screw augmentation failure occurred in only one patient: 1 of the 16 ventral augmented screws (5.5%) was still loose after the augmentation procedure. In three other patients, 4 out of 48 augmented dorsal screws (5.5%) showed CAC leakage at the pedicle corpus vertebra level. Pedicle wall damage was present at two levels, while at two other levels no wall damage was found during visualization. No CAC-related complications were observed perioperatively. No implant migration was observed, and fusion was observed in all cases at follow-up examination performed at a mean of 32 months after surgery.  (+info)

The effects of pineal gland transplantation on the production of spinal deformity and serum melatonin level following pinealectomy in the chicken. (4/83)

Pinealectomy frequently produces spinal deformity in some animal models, but the precise biological mechanism of this phenomenon remains obscure. The current study investigated the effects of an autograft pineal body on the development of spinal deformity and serum melatonin (MLT) concentration after pinealectomy in the chicken. Thirty-six chickens (2 days of age) were divided into three equal groups. While the removal of the pineal gland was performed in groups B and C, a pineal body autograft was surgically implanted into the body wall musculature only in the pineal transplantation group (group C). Chickens in which no surgical intervention was performed served as intact controls (group A). Posteroanterior radiographs of the spines of the chickens were taken at the age of 8 weeks. These were used to determine Cobb angles and to measure the rib-vertebra angles (RVA) on the concave and convex sides of the curves, from which data the difference between the convex and concave RVA (the RVAD) was calculated. At the end of the study, serum MLT levels were determined using the enzyme-linked immunosorbent assay method, and histopathological examination of specimens from all the groups was performed. The results were compared using one-way analysis of variance followed by Duncan's test for pairwise comparisons or by the Kruskal-Wallis test followed by the Mann-Whitney U tests for comparisons between two groups. In this study, the serum MLT levels in groups B and C were significantly lower than those in group A ( P<0.05). However, scoliosis developed in only 7 of 12 (58%) in group B and 6 of 12 (50%) in group C. The average Cobb angle and RVAD in groups B and C were significantly larger than those found in group A ( P=0.000 and P=0.001, respectively). Interestingly, there were no significant differences in either serum MLT levels or development of scoliosis between groups B and C. From the results of the current study, it is evident that the intramuscular pineal gland transplantation following pinealectomy in young Hybro Broiler chickens has no significant effect on the development of spinal deformity and serum MLT level. In the light of this result, the role of MLT in the development of spinal deformity in chickens after pinealectomy remains controversial, and further investigations are warranted.  (+info)

Dropped head syndrome in mitochondriopathy. (5/83)

In a 63-year-old, 165-cm-tall woman with a history of repeated tick bites, dilative cardiomyopathy, osteoporosis, progressive head ptosis with neck stiffness and cervical pain developed. The family history was positive for thyroid dysfunction and neuromuscular disorders. Neurological examination revealed prominent forward head drop, weak anteflexion and retroflexion, nuchal rigidity, weakness of the shoulder girdle, cogwheel rigidity, and tetraspasticity. The lactate stress test was abnormal. Electromyograms of various muscles were myogenic. Muscle biopsy showed non-specific myogenic abnormalities and generally weak staining for cytochrome oxydase. Mitochondriopathy with multi-organ involvement was suspected. The response to anti-Parkinson medication was poor. In conclusion, dropped head syndrome (DHS) may be due to multi-organ mitochondriopathy, manifesting as Parkinsonism, tetraspasticity, dilative cardiomyopathy, osteoporosis, short stature, and myopathy. Anti-Parkinson medication is of limited effect.  (+info)

Reliability and validity of classification of senile postural deformity in mass examinations. (6/83)

Nakada (1988) divided senile postural deformities into four types by visual observation: an extended type, an S-shaped type, a flexed type, and a hand-on-the-lap type. The purpose of this study was to investigate the inter-rater reliability and the discriminant validity of assessing the elderly spinal posture using a posture-measuring device developed by us and dividing postural deformities into the four types of Nakada's classification. Seventy-seven elderly persons (52 women and 25 men) who lived independently participated in the study. The average age of the subjects was 73 years (range, 65 to 84 years). The type of the senile postural deformity was determined by three judges using our posture-measuring device in combination with Nakada's classification. The rate of agreement of the classification was 92.2%. This method had a significantly high rate of inter-rater reliability. The thoracic kyphotic angle was larger in the S-shaped type than in the normal, extended type, and flexed type. The lumbar lordotic angle was also larger in the S-shaped type than in the extended type, flexed type, and hand-on-the-lap type. In the hand-on-the-lap type, the mean of the lumbar lordotic angle was much smaller. The lumbosacral angle was smaller in the extended type than in the normal, S-shaped type, and flexed type. With the analysis of x-ray photographs, this method appeared to have discriminant validity as a measure of senile postural deformity. The combination of our posture-measuring device and Nakada's classification would be useful to classify senile postural deformities in mass examinations.  (+info)

Surgical treatment of spinal deformities in Duchenne muscular dystrophy: a long term follow-up study. (7/83)

BACKGROUND: Surgical treatment of spinal deformities in Duchenne muscular dystrophy (DMD) is influenced by a number of factors which have proven to be a difficult challenge. Each case should be carefully evaluated, considering not only the natural history of the spinal deformity, but also the patient's general condition. These should be thoroughly assessed through clinical and radiographic investigations together with other medical specialists. Life expectancy should be determined according to the cardio-respiratory function, and both preoperative and postoperative quality of life should be taken into consideration, trying to imagine the functional status of each patient after surgery. METHODS: From February 1985 to February 2000, 58 patients with spinal deformity in DMD were surgically treated. Of 25 patients that were operated on between 1985 and 1995, only 20 were followed-up after 5 years because 5 of them had died during this time. Therefore, the present study focuses on the results obtained in 20 cases. The 20 cases reviewed presented with a mean angular value of scoliosis equal to 48 degrees (range 10-92 degrees). Spinal fusion with our modified Luque technique [6] was performed in 19 cases, whereas CD instrumentation was applied in only one case. RESULTS: At the 5 year follow-up (range 5.6-10 years), the age ranged from 18 to 24 years and averaged 20.4 years. The postoperative angular value of scoliosis averaged 22 degrees (58%, range 0-43 degrees), the mean correction at follow-up was 28 degrees (range 0-60 degrees), and the mean loss of correction was equal to 6 degrees (range, 0-11 degrees). Vital capacity showed a slow progression, slightly inferior to its natural evolution in untreated patients. The severest complication was the death that occurred in one of the patients. CONCLUSIONS: According to the present study, an early surgery (angular value lower than 35-40 degrees) dramatically reduces the rate of risk factors associated with spinal deformities in DMD, and its advantages far exceed the disadvantages, above all in terms of quality of life.  (+info)

Anterior thoracic posture increases thoracolumbar disc loading. (8/83)

In the absence of external forces, the largest contributor to intervertebral disc (IVD) loads and stresses is trunk muscular activity. The relationship between trunk posture, spine geometry, extensor muscle activity, and the loads and stresses acting on the IVD is not well understood. The objective of this study was to characterize changes in thoracolumbar disc loads and extensor muscle forces following anterior translation of the thoracic spine in the upright posture. Vertebral body geometries (C2 to S1) and the location of the femoral head and acetabulum centroids were obtained by digitizing lateral, full-spine radiographs of 13 men and five women volunteers without previous history of back pain. Two standing, lateral, full-spine radiographic views were obtained for each subject: a neutral-posture lateral radiograph and a radiograph during anterior translation of the thorax relative to the pelvis (while keeping T1 aligned over T12). Extensor muscle loads, and compression and shear stresses acting on the IVDs, were calculated for each posture using a previously validated biomechanical model. Comparing vertebral centroids for the neutral posture to the anterior posture, subjects were able to anterior translate +101.5 mm+/-33.0 mm (C7-hip axis), +81.5 mm+/-39.2 mm (C7-S1) (vertebral centroid of C7 compared with a vertical line through the vertebral centroid of S1), and +58.9 mm+/-19.1 mm (T12-S1). In the anterior translated posture, disc loads and stresses were significantly increased for all levels below T9. Increases in IVD compressive loads and shear loads, and the corresponding stresses, were most marked at the L5-S1 level and L3-L4 level, respectively. The extensor muscle loads required to maintain static equilibrium in the upright posture increased from 147.2 N (mean, neutral posture) to 667.1 N (mean, translated posture) at L5-S1. Compressive loads on the anterior and posterior L5-S1 disc nearly doubled in the anterior translated posture. Anterior translation of the thorax resulted in significantly increased loads and stresses acting on the thoracolumbar spine. This posture is common in lumbar spinal disorders and could contribute to lumbar disc pathologies, progression of L5-S1 spondylolisthesis deformities, and poor outcomes after lumbar spine surgery. In conclusion, anterior trunk translation in the standing subject increases extensor muscle activity and loads and stresses acting on the intervertebral disc in the lower thoracic and lumbar regions.  (+info)

Spinal curvatures refer to the normal or abnormal curvature patterns of the spine as viewed from the side. The human spine has four distinct curves that form an "S" shape when viewed from the side: cervical, thoracic, lumbar, and sacral. These natural curves provide strength, flexibility, and balance to the spine, allowing us to stand upright, maintain proper posture, and absorb shock during movement.

Abnormal spinal curvatures are often referred to as spinal deformities and can be classified into two main categories: hyperkyphosis (increased kyphosis) and hyperlordosis (increased lordosis). Examples of such conditions include:

1. Kyphosis: An excessive curvature in the thoracic or sacral regions, leading to a hunchback or rounded appearance. Mild kyphosis is common and usually not problematic, but severe cases can cause pain, breathing difficulties, and neurological issues.
2. Lordosis: An abnormal increase in the curvature of the lumbar or cervical spine, resulting in an exaggerated swayback posture. This can lead to lower back pain, muscle strain, and difficulty maintaining proper balance.
3. Scoliosis: A lateral (side-to-side) spinal curvature that causes the spine to twist and rotate, forming a C or S shape when viewed from behind. Most scoliosis cases are idiopathic (of unknown cause), but they can also be congenital (present at birth) or secondary to other medical conditions.

These abnormal spinal curvatures may require medical intervention, such as physical therapy, bracing, or surgery, depending on the severity and progression of the condition.

Scoliosis is a medical condition characterized by an abnormal lateral curvature of the spine, which most often occurs in the thoracic or lumbar regions. The curvature can be "C" or "S" shaped and may also include rotation of the vertebrae. Mild scoliosis doesn't typically cause problems, but severe cases can interfere with breathing and other bodily functions.

The exact cause of most scoliosis is unknown, but it may be related to genetic factors. It often develops in the pre-teen or teenage years, particularly in girls, and is more commonly found in individuals with certain neuromuscular disorders such as cerebral palsy and muscular dystrophy.

Treatment for scoliosis depends on the severity of the curve, its location, and the age and expected growth of the individual. Mild cases may only require regular monitoring to ensure the curve doesn't worsen. More severe cases may require bracing or surgery to correct the curvature and prevent it from getting worse.

Scheuermann's Disease, also known as Scheuermann's Kyphosis, is a medical condition that affects the spine. It is a developmental disorder of the vertebral bodies involving anterior wedging of at least three adjacent vertebrae, leading to a progressive rounded or hunchback-like curvature of the upper (thoracic) spine. This deformity can result in a rigid, angular kyphosis and may cause back pain, breathing difficulties, or cosmetic concerns. The exact cause of Scheuermann's Disease is unknown, but it tends to run in families and is more common in males than females. Treatment typically includes physical therapy, bracing, and, in severe cases, surgery.

"Poecilia" is not a medical term, but a biological genus name. It belongs to the family Poeciliidae and includes several species of small freshwater fish commonly known as mollies, guppies, and swordtails. These fish are often kept in aquariums as pets. They are livebearers, which means they give birth to live young rather than laying eggs.

The spine, also known as the vertebral column, is a complex structure in the human body that is part of the axial skeleton. It is composed of 33 individual vertebrae (except in some people where there are fewer due to fusion of certain vertebrae), intervertebral discs, facet joints, ligaments, muscles, and nerves.

The spine has several important functions:

1. Protection: The spine protects the spinal cord, which is a major component of the nervous system, by enclosing it within a bony canal.
2. Support: The spine supports the head and upper body, allowing us to maintain an upright posture and facilitating movement of the trunk and head.
3. Movement: The spine enables various movements such as flexion (bending forward), extension (bending backward), lateral flexion (bending sideways), and rotation (twisting).
4. Weight-bearing: The spine helps distribute weight and pressure evenly across the body, reducing stress on individual vertebrae and other structures.
5. Blood vessel and nerve protection: The spine protects vital blood vessels and nerves that pass through it, including the aorta, vena cava, and spinal nerves.

The spine is divided into five regions: cervical (7 vertebrae), thoracic (12 vertebrae), lumbar (5 vertebrae), sacrum (5 fused vertebrae), and coccyx (4 fused vertebrae, also known as the tailbone). Each region has unique characteristics that allow for specific functions and adaptations to the body's needs.

Kyphosis is a medical term used to describe an excessive curvature of the spine in the sagittal plane, leading to a rounded or humped back appearance. This condition often affects the thoracic region of the spine and can result from various factors such as age-related degenerative changes, congenital disorders, Scheuermann's disease, osteoporosis, or traumatic injuries. Mild kyphosis may not cause any significant symptoms; however, severe cases can lead to pain, respiratory difficulties, and decreased quality of life. Treatment options typically include physical therapy, bracing, and, in some cases, surgical intervention.

The spinal cord is a major part of the nervous system, extending from the brainstem and continuing down to the lower back. It is a slender, tubular bundle of nerve fibers (axons) and support cells (glial cells) that carries signals between the brain and the rest of the body. The spinal cord primarily serves as a conduit for motor information, which travels from the brain to the muscles, and sensory information, which travels from the body to the brain. It also contains neurons that can independently process and respond to information within the spinal cord without direct input from the brain.

The spinal cord is protected by the bony vertebral column (spine) and is divided into 31 segments: 8 cervical, 12 thoracic, 5 lumbar, 5 sacral, and 1 coccygeal. Each segment corresponds to a specific region of the body and gives rise to pairs of spinal nerves that exit through the intervertebral foramina at each level.

The spinal cord is responsible for several vital functions, including:

1. Reflexes: Simple reflex actions, such as the withdrawal reflex when touching a hot surface, are mediated by the spinal cord without involving the brain.
2. Muscle control: The spinal cord carries motor signals from the brain to the muscles, enabling voluntary movement and muscle tone regulation.
3. Sensory perception: The spinal cord transmits sensory information, such as touch, temperature, pain, and vibration, from the body to the brain for processing and awareness.
4. Autonomic functions: The sympathetic and parasympathetic divisions of the autonomic nervous system originate in the thoracolumbar and sacral regions of the spinal cord, respectively, controlling involuntary physiological responses like heart rate, blood pressure, digestion, and respiration.

Damage to the spinal cord can result in various degrees of paralysis or loss of sensation below the level of injury, depending on the severity and location of the damage.

Posture is the position or alignment of body parts supported by the muscles, especially the spine and head in relation to the vertebral column. It can be described as static (related to a stationary position) or dynamic (related to movement). Good posture involves training your body to stand, walk, sit, and lie in positions where the least strain is placed on supporting muscles and ligaments during movement or weight-bearing activities. Poor posture can lead to various health issues such as back pain, neck pain, headaches, and respiratory problems.

Spinal cord injuries (SCI) refer to damage to the spinal cord that results in a loss of function, such as mobility or feeling. This injury can be caused by direct trauma to the spine or by indirect damage resulting from disease or degeneration of surrounding bones, tissues, or blood vessels. The location and severity of the injury on the spinal cord will determine which parts of the body are affected and to what extent.

The effects of SCI can range from mild sensory changes to severe paralysis, including loss of motor function, autonomic dysfunction, and possible changes in sensation, strength, and reflexes below the level of injury. These injuries are typically classified as complete or incomplete, depending on whether there is any remaining function below the level of injury.

Immediate medical attention is crucial for spinal cord injuries to prevent further damage and improve the chances of recovery. Treatment usually involves immobilization of the spine, medications to reduce swelling and pressure, surgery to stabilize the spine, and rehabilitation to help regain lost function. Despite advances in treatment, SCI can have a significant impact on a person's quality of life and ability to perform daily activities.

Spinal injections, also known as epidural injections or intrathecal injections, are medical procedures involving the injection of medications directly into the spinal canal. The medication is usually delivered into the space surrounding the spinal cord (the epidural space) or into the cerebrospinal fluid that surrounds and protects the spinal cord (the subarachnoid space).

The medications used in spinal injections can include local anesthetics, steroids, opioids, or a combination of these. The purpose of spinal injections is to provide diagnostic information, therapeutic relief, or both. They are commonly used to treat various conditions affecting the spine, such as radicular pain (pain that radiates down the arms or legs), disc herniation, spinal stenosis, and degenerative disc disease.

Spinal injections can be administered using different techniques, including fluoroscopy-guided injections, computed tomography (CT) scan-guided injections, or with the help of a nerve stimulator. These techniques ensure accurate placement of the medication and minimize the risk of complications.

It is essential to consult a healthcare professional for specific information regarding spinal injections and their potential benefits and risks.

MedlinePlus is not a medical term, but rather a consumer health website that provides high-quality, accurate, and reliable health information, written in easy-to-understand language. It is produced by the U.S. National Library of Medicine, the world's largest medical library, and is widely recognized as a trusted source of health information.

MedlinePlus offers information on various health topics, including conditions, diseases, tests, treatments, and wellness. It also provides access to drug information, medical dictionary, and encyclopedia, as well as links to clinical trials, medical news, and patient organizations. The website is available in both English and Spanish and can be accessed for free.

Spinal muscular atrophy (SMA) is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. It is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which results in a deficiency of SMN protein necessary for the survival of motor neurons.

There are several types of SMA, classified based on the age of onset and severity of symptoms. The most common type is type 1, also known as Werdnig-Hoffmann disease, which presents in infancy and is characterized by severe muscle weakness, hypotonia, and feeding difficulties. Other types include type 2 (intermediate SMA), type 3 (Kugelberg-Welander disease), and type 4 (adult-onset SMA).

The symptoms of SMA may include muscle wasting, fasciculations, weakness, hypotonia, respiratory difficulties, and mobility impairment. The diagnosis of SMA typically involves genetic testing to confirm the presence of a mutation in the SMN1 gene. Treatment options for SMA may include medications, physical therapy, assistive devices, and respiratory support.

Spinal muscular atrophies (SMAs) of childhood are a group of inherited neuromuscular disorders characterized by degeneration and loss of lower motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy. The severity and age of onset can vary significantly, with some forms presenting in infancy and others in later childhood or even adulthood.

The most common form of SMA is 5q autosomal recessive SMA, also known as survival motor neuron (SMN) disease, which results from mutations in the SMN1 gene. The severity of this form can range from severe (type I or Werdnig-Hoffmann disease), intermediate (type II or chronic infantile neurodegenerative disorder), to mild (type III or Kugelberg-Welander disease).

Type I SMA is the most severe form, with onset before 6 months of age and rapid progression leading to death within the first two years of life if left untreated. Type II SMA has an onset between 6 and 18 months of age, with affected children never achieving the ability to walk independently. Type III SMA has a later onset, typically after 18 months of age, and is characterized by a slower progression, allowing for the ability to walk unaided, although mobility may be lost over time.

Other forms of childhood-onset SMA include autosomal dominant distal SMA, X-linked SMA, and spinal bulbar muscular atrophy (SBMA or Kennedy's disease). These forms have distinct genetic causes and clinical presentations.

In general, SMAs are characterized by muscle weakness, hypotonia, fasciculations, tongue atrophy, and depressed or absent deep tendon reflexes. Respiratory and nutritional support is often required in more severe cases. Recent advances in gene therapy have led to the development of disease-modifying treatments for some forms of SMA.

Survival of Motor Neuron 1 (SMN1) protein is a critical component for the survival of motor neurons, which are nerve cells that control muscle movements. The SMN1 protein is produced by the Survival of Motor Neuron 1 gene, located on human chromosome 5q13.

The primary function of the SMN1 protein is to assist in the biogenesis of small nuclear ribonucleoproteins (snRNPs), which are essential for spliceosomes - complex molecular machines responsible for RNA processing in the cell. The absence or significant reduction of SMN1 protein leads to defective snRNP assembly, impaired RNA splicing, and ultimately results in motor neuron degeneration.

Mutations in the SMN1 gene can cause Spinal Muscular Atrophy (SMA), a genetic disorder characterized by progressive muscle weakness, atrophy, and paralysis due to the loss of lower motor neurons in the spinal cord. The severity of SMA depends on the amount of functional SMN1 protein produced, with less protein leading to more severe symptoms.

The Survival Motor Neuron (SMN) complex is a protein complex that plays a crucial role in the biogenesis of small nuclear ribonucleoproteins (snRNPs), which are essential components of the spliceosome involved in pre-messenger RNA (pre-mRNA) splicing. The SMN complex consists of several proteins, including the SMN protein itself, Gemins2-8, and unrip.

The SMN protein is the central component of the complex and is encoded by the SMN1 gene located on chromosome 5q13.2. Mutations in this gene can lead to spinal muscular atrophy (SMA), a genetic disorder characterized by degeneration of motor neurons in the spinal cord, leading to muscle weakness and atrophy.

The SMN complex assembles in the cytoplasm and facilitates the assembly of spliceosomal snRNPs by helping to load Sm proteins onto small nuclear RNA (snRNA) molecules. Proper functioning of the SMN complex is essential for the correct splicing of pre-mRNA, and its dysfunction can lead to various developmental abnormalities and diseases, including SMA.

Survival of Motor Neuron 2 (SMN2) protein is a functional copy of the Survival of Motor Neuron (SMN) protein, which is produced from the SMN2 gene. The SMN protein is crucial for the survival of motor neurons, the nerve cells that control muscle movement. In people with spinal muscular atrophy (SMA), a genetic disorder that causes progressive muscle weakness and loss of movement, there is a mutation in the main SMN1 gene that leads to reduced levels of functional SMN protein.

The SMN2 gene can also produce some functional SMN protein, but it mainly produces an unstable, truncated form of the protein due to a critical difference in its exon 7 splicing pattern. However, a small percentage (about 10-15%) of SMN2 transcripts can be correctly spliced and produce full-length, functional SMN protein. The amount of functional SMN protein produced from the SMN2 gene is directly related to the severity of SMA; more SMN protein production from SMN2 leads to less severe symptoms. Therefore, therapies aimed at increasing SMN2-derived SMN protein levels are being developed and tested for the treatment of SMA.

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