A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)
A pyridoxal-phosphate protein that catalyzes the alpha-decarboxylation of L-glutamic acid to form gamma-aminobutyric acid and carbon dioxide. The enzyme is found in bacteria and in invertebrate and vertebrate nervous systems. It is the rate-limiting enzyme in determining GAMMA-AMINOBUTYRIC ACID levels in normal nervous tissues. The brain enzyme also acts on L-cysteate, L-cysteine sulfinate, and L-aspartate. EC 4.1.1.15.
A characteristic symptom complex.
Muscles forming the ABDOMINAL WALL including RECTUS ABDOMINIS, external and internal oblique muscles, transversus abdominis, and quadratus abdominis. (from Stedman, 25th ed)
The anterior concavity in the curvature of the lumbar and cervical spine as viewed from the side. The term usually refers to abnormally increased curvature (hollow back, saddle back, swayback). It does not include lordosis as normal mating posture in certain animals ( = POSTURE + SEX BEHAVIOR, ANIMAL).
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.

Stiff-man syndrome: from the bedside to the bench. (1/65)

The study of SMS, a rare disease, has resulted in a better understanding of a more common disorder, IDDM, and has allowed investigators to gain insights into the molecular mechanisms of autoimmunity. Many unanswered questions remain, such as the specific site of disease activity in SMS, both at the bedside (cortex, brain stem, or spinal cord) and at the bench (neuronal cytoplasma or synapse). The association of SMS with neoplastic disease and the development of autonomicdysfunction are not understood. The next decade may provide answers to these puzzling issues.  (+info)

Autoimmunity to gephyrin in Stiff-Man syndrome. (2/65)

Stiff-Man syndrome (SMS) is a rare disease of the central nervous system (CNS) characterized by chronic rigidity, spasms, and autoimmunity directed against synaptic antigens, most often the GABA-synthesizing enzyme glutamic acid decarboxylase (GAD). In a subset of cases, SMS has an autoimmune paraneoplastic origin. We report here the identification of high-titer autoantibodies directed against gephyrin in a patient with clinical features of SMS and mediastinal cancer. Gephyrin is a cytosolic protein selectively concentrated at the postsynaptic membrane of inhibitory synapses, where it is associated with GABA(A) and glycine receptors. Our findings provide new evidence for a close link between autoimmunity directed against components of inhibitory synapses and neurological conditions characterized by chronic rigidity and spasms.  (+info)

Motor cortex excitability in stiff-person syndrome. (3/65)

Muscle stiffness in stiff-person syndrome (SPS) is produced by continuous, involuntary firing of motor units that is thought to be caused by an autoimmune mediated dysfunction of GABA-ergic inhibitory neurones. We have postulated that the loss of GABA-ergic inputs from spinal interneurones alone is insufficient to produce tonic firing of motor neurones and that excessive supraspinal excitation could also play a role. To determine whether SPS is associated with dysfunction in supraspinal GABA-ergic neurones, we assessed the excitability of the motor cortex with transcranial magnetic stimulation (TMS) in seven SPS patients and seven age-matched healthy volunteers. SPS patients had normal central motor conduction times, normal thresholds for motor evoked potentials (MEPs) in leg muscles, and a normal MEP stimulus versus response recruitment curve with increasing TMS intensities in resting hand and leg muscles. Cortical silent periods were shortened in leg muscles. Intracortical inhibition and excitation were assessed while recording from the abductor pollicis brevis, using a paired pulse TMS paradigm with subthreshold conditioning stimuli. Patients had decreased inhibition and markedly increased facilitation at short intervals. Using paired suprathreshold TMS, patients exhibited increased facilitation at 20- and 40-ms intervals. These results point to a hyperexcitability of the motor cortex in SPS, which could be explained by impairment of supraspinal GABA-ergic neurones, leading to an impaired balance between inhibitory and excitatory intracortical circuitry.  (+info)

Stiff-person syndrome associated with cerebellar ataxia and high glutamic acid decarboxylase antibody titer. (4/65)

Glutamic acid decarboxylase (GAD) is the main target of humoral autoimmunity in patients with insulin-dependent diabetes mellitus (IDDM) and stiff-person syndrome. We reviewed the case of a 46-year-old woman who had cerebellar ataxia before getting stiff-person syndrome and IDDM with high anti-GAD autoantibody titers. This was a rare case in which there were both the clinical symptoms of stiff-person syndrome and cerebellar ataxia. In western blot analysis her serum reacted with 65-kDa proteins from rat cerebellum, cerebral cortex, and spinal cord. Autoantibodies to GAD may cause functional impairment of gamma-aminobutyric acid (GABA) neurons in the spinal cord as well as in the cerebellum.  (+info)

High-dose intravenous immune globulin for stiff-person syndrome. (5/65)

BACKGROUND: Stiff-person syndrome is a disabling central nervous system disorder with no satisfactory treatment that is characterized by muscle rigidity, episodic muscle spasms, high titers of antibodies against glutamic acid decarboxylase (GAD65), and a frequent association with autoimmune disorders. Because stiff-person syndrome is most likely immune-mediated, we evaluated the efficacy of intravenous immune globulin. METHODS: We assigned 16 patients who had stiff-person syndrome and anti-GAD65 antibodies, in random order, to receive intravenous immune globulin or placebo for three months, followed by a one-month washout period and then by three months of therapy with the alternative agent. Efficacy was judged by improvements in scores on the distribution-of-stiffness index and heightened-sensitivity scale from base line (month 1) to the second and third month of each treatment phase. Direct and carryover effects of treatment were compared in the two groups. RESULTS: Among patients who received immune globulin first, stiffness scores decreased significantly (P=0.02) and heightened-sensitivity scores decreased substantially during immune globulin therapy but rebounded during placebo administration. In contrast, the scores in the group that received placebo first remained constant during placebo administration but dropped significantly during immune globulin therapy (P=0.01). When the data were analyzed for a direct and a first-order carryover effect, there was a significant difference in stiffness scores (P=0.01 and P<0.001, respectively) between the immune globulin and placebo groups, and immune globulin therapy had a significant direct treatment effect on sensitivity scores (P=0.03). Eleven patients who received immune globulin became able to walk more easily or without assistance, their frequency of falls decreased, and they were able to perform work-related or household tasks. The duration of the beneficial effects of immune globulin varied from six weeks to one year. Anti-GAD65 antibody titers declined after immune globulin therapy but not after placebo administration. CONCLUSIONS: Intravenous immune globulin is a well-tolerated and effective, albeit costly, therapy for patients with stiff-person syndrome and anti-GAD65 antibodies.  (+info)

Intravenous immunoglobulin in neurological disease: a specialist review. (6/65)

Treatment of neurological disorders with intravenous immunoglobulin (IVIg) is an increasing feature of our practice for an expanding range of indications. For some there is evidence of benefit from randomised controlled trials, whereas for others evidence is anecdotal. The relative rarity of some of the disorders means that good randomised control trials will be difficult to deliver. Meanwhile, the treatment is costly and pressure to "do something" in often distressing disorders considerable. This review follows a 1 day meeting of the authors in November 2000 and examines current evidence for the use of IVIg in neurological conditions and comments on mechanisms of action, delivery, safety and tolerability, and health economic issues. Evidence of efficacy has been classified into levels for healthcare interventions (tables 1 and 2).  (+info)

Stiff person syndrome and myasthenia gravis. (7/65)

Association of stiff person syndrome, an immune related disorder of anterior horn cells and myasthenia gravis an endplate disorder with similar pathogenesis, is rare. This communication documents this association in the Indian literature for the first time.  (+info)

T-cell reactivity to glutamic acid decarboxylase in stiff-man syndrome and cerebellar ataxia associated with polyendocrine autoimmunity. (8/65)

Antibodies to glutamic acid decarboxilase (GAD-Abs) are present in the serum of 60-80% of newly diagnosed type 1 diabetes (DM1) patients and patients with autoimmune polyendocrine syndrome (APS) associated with DM1. Higher titre of GAD-Abs are also present in the serum of 60% of patients with stiff-man syndrome (SMS) and all reported patients with cerebellar ataxia associated with polyendocrine autoimmunity (CAPA). Several studies suggest that GAD-Abs may play a critical role in the pathogenesis of SMS and CAPA but little is known about T-cell responsiveness to GAD-65 in these neurological diseases. To analyse cell-mediated responses to GAD, we studied the peripheral blood lymphocyte proliferation and cytokine responses to recombinant human GAD-65 in 5 patients with SMS, 6 with CAPA, 9 with DM1, 8 with APS and 15 control subjects. GAD-65-specific cellular proliferation was significantly higher in SMS than in CAPA, DM1, APS or controls. In contrast, only T cells from CAPA patients showed a significantly high production of interferon-gamma after GAD stimulation, compared to all other patients and controls. No differences were found for IL-4 production. These results suggest that, despite similar humoral autoreactivity, cellular responses to GAD are different between SMS and CAPA, with a greater inflammatory response in CAPA, and this difference may be relevant to the pathogenesis of these diseases.  (+info)

Stiff-Person Syndrome (SPS) is a rare neurological disorder characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as touch, sound, and emotional distress, which can trigger muscle spasms. The symptoms can significantly affect a person's ability to perform daily activities and can lead to frequent falls and injuries. SPS is often associated with antibodies against glutamic acid decarboxylase (GAD), an enzyme involved in the production of a neurotransmitter called gamma-aminobutyric acid (GABA) that helps regulate muscle movement. The exact cause of SPS remains unknown, but it is thought to involve both autoimmune and genetic factors.

Glutamate decarboxylase (GAD) is an enzyme that plays a crucial role in the synthesis of the neurotransmitter gamma-aminobutyric acid (GABA) in the brain. GABA is an inhibitory neurotransmitter that helps to balance the excitatory effects of glutamate, another neurotransmitter.

Glutamate decarboxylase catalyzes the conversion of glutamate to GABA by removing a carboxyl group from the glutamate molecule. This reaction occurs in two steps, with the enzyme first converting glutamate to glutamic acid semialdehyde and then converting that intermediate product to GABA.

There are two major isoforms of glutamate decarboxylase, GAD65 and GAD67, which differ in their molecular weight, subcellular localization, and function. GAD65 is primarily responsible for the synthesis of GABA in neuronal synapses, while GAD67 is responsible for the synthesis of GABA in the cell body and dendrites of neurons.

Glutamate decarboxylase is an important target for research in neurology and psychiatry because dysregulation of GABAergic neurotransmission has been implicated in a variety of neurological and psychiatric disorders, including epilepsy, anxiety, depression, and schizophrenia.

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.

The abdominal muscles, also known as the abdominals or abs, are a group of muscles in the anterior (front) wall of the abdominopelvic cavity. They play a crucial role in maintaining posture, supporting the trunk, and facilitating movement of the torso. The main abdominal muscles include:

1. Rectus Abdominis: These are the pair of long, flat muscles that run vertically along the middle of the anterior abdominal wall. They are often referred to as the "six-pack" muscles due to their visible, segmented appearance in well-trained individuals. The primary function of the rectus abdominis is to flex the spine, allowing for actions such as sitting up from a lying down position or performing a crunch exercise.

2. External Obliques: These are the largest and most superficial of the oblique muscles, located on the lateral (side) aspects of the abdominal wall. They run diagonally downward and forward from the lower ribs to the iliac crest (the upper part of the pelvis) and the pubic tubercle (a bony prominence at the front of the pelvis). The external obliques help rotate and flex the trunk, as well as assist in side-bending and exhalation.

3. Internal Obliques: These muscles lie deep to the external obliques and run diagonally downward and backward from the lower ribs to the iliac crest, pubic tubercle, and linea alba (the strong band of connective tissue that runs vertically along the midline of the abdomen). The internal obliques help rotate and flex the trunk, as well as assist in forced exhalation and increasing intra-abdominal pressure during actions such as coughing or lifting heavy objects.

4. Transversus Abdominis: This is the deepest of the abdominal muscles, located inner to both the internal obliques and the rectus sheath (a strong, fibrous covering that surrounds the rectus abdominis). The transversus abdominis runs horizontally around the abdomen, attaching to the lower six ribs, the thoracolumbar fascia (a broad sheet of connective tissue spanning from the lower back to the pelvis), and the pubic crest (the front part of the pelvic bone). The transversus abdominis helps maintain core stability by compressing the abdominal contents and increasing intra-abdominal pressure.

Together, these muscles form the muscular "corset" of the abdomen, providing support, stability, and flexibility to the trunk. They also play a crucial role in respiration, posture, and various movements such as bending, twisting, and lifting.

Lordosis is a term used in the medical field to describe an excessive inward curvature of the spine. It most commonly occurs in the cervical (neck) and lumbar (lower back) regions. When it happens in the lower back, it's often referred to as swayback. While some degree of lordosis is normal and necessary for proper spinal alignment and movement, excessive curvature can lead to pain, discomfort, and difficulty with mobility. It can be caused by a variety of factors, including poor posture, obesity, pregnancy, and certain medical conditions such as kyphosis or spondylolisthesis.

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

Cerebellar ataxia is a type of ataxia, which refers to a group of disorders that cause difficulties with coordination and movement. Cerebellar ataxia specifically involves the cerebellum, which is the part of the brain responsible for maintaining balance, coordinating muscle movements, and regulating speech and eye movements.

The symptoms of cerebellar ataxia may include:

* Unsteady gait or difficulty walking
* Poor coordination of limb movements
* Tremors or shakiness, especially in the hands
* Slurred or irregular speech
* Abnormal eye movements, such as nystagmus (rapid, involuntary movement of the eyes)
* Difficulty with fine motor tasks, such as writing or buttoning a shirt

Cerebellar ataxia can be caused by a variety of underlying conditions, including:

* Genetic disorders, such as spinocerebellar ataxia or Friedreich's ataxia
* Brain injury or trauma
* Stroke or brain hemorrhage
* Infections, such as meningitis or encephalitis
* Exposure to toxins, such as alcohol or certain medications
* Tumors or other growths in the brain

Treatment for cerebellar ataxia depends on the underlying cause. In some cases, there may be no cure, and treatment is focused on managing symptoms and improving quality of life. Physical therapy, occupational therapy, and speech therapy can help improve coordination, balance, and communication skills. Medications may also be used to treat specific symptoms, such as tremors or muscle spasticity. In some cases, surgery may be recommended to remove tumors or repair damage to the brain.

Autoantibodies are defined as antibodies that are produced by the immune system and target the body's own cells, tissues, or organs. These antibodies mistakenly identify certain proteins or molecules in the body as foreign invaders and attack them, leading to an autoimmune response. Autoantibodies can be found in various autoimmune diseases such as rheumatoid arthritis, lupus, and thyroiditis. The presence of autoantibodies can also be used as a diagnostic marker for certain conditions.

... (SPS), also known as stiff-man syndrome, is a rare neurologic disorder of unclear cause characterized by ... The name of the disease was shifted from "stiff-man syndrome" to the gender-neutral "stiff-person syndrome" in 1991. In 1963, ... ISBN 978-0-12-417127-5. The stiff-man syndrome (SMS, also known as stiff-person syndrome) is a rare central nervous system ... Dalmau, Rosenfeld & Graus 2022, "Paraneoplastic Stiff-Person Syndrome". "Paraneoplastic Syndromes , National Institute of ...
Murinson BB (2004). "Stiff-person syndrome". Neurologist. 10 (3): 131-7. doi:10.1097/01.nrl.0000126587.37087.1a. PMID 15140273 ... Some, such as chronic fatigue syndrome, are controversial. These conditions are included here because they are frequently ... "POEMS syndrome: definitions and long-term outcome". Blood. 101 (7): 2496-506. doi:10.1182/blood-2002-07-2299. PMID 12456500. ... "Immune complexes and the pathogenesis of neutropenia in Felty's syndrome". Annals of the Rheumatic Diseases. 45 (8): 696-702. ...
"Stiff-Person Syndrome - Neurologic Disorders". Merck Manuals Professional Edition. Retrieved 2023-07-03. Newsome, Scott D.; ... "Stiff person syndrome spectrum disorders; more than meets the eye". Journal of Neuroimmunology. 369: 577915. doi:10.1016/j. ... 600092 - NIVELON-NIVELON-MABILLE SYNDROME; NNMS". omim.org. Retrieved 2023-07-03. "SATOYOSHI SYNDROME". www.omim.org. Retrieved ... 255800 - SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1". omim.org. Retrieved 2023-07-03. "#300280 - URUGUAY FACIOCARDIOMUSCULOSKELETAL ...
On 8 December 2022, Dion announced she had been diagnosed with stiff-person syndrome, a rare neurological disease, and that it ... Bever, Lindsey (8 December 2022). "What is stiff-person syndrome? Celine Dion reveals rare condition". The Washington Post. ... Dion disclosed that she had been diagnosed with stiff-person syndrome, a neurological disorder affecting her muscles. Les ... People from Charlemagne, Quebec, People from Henderson, Nevada, People from Jupiter Island, Florida, Philanthropists from ...
Stiff-person syndrome "Archived copy" (PDF). Archived from the original (PDF) on 2005-09-04. Retrieved 2006-08-18.{{cite web ... To this date, fewer than 50 cases worldwide have been reported for the syndrome. People with the syndrome typically develop ... Satoyoshi syndrome, also known as Komura-Guerri syndrome, is a rare progressive disorder of presumed autoimmune cause, ... The syndrome is not known to be a primary cause of mortality, but some patients have died as a result of secondary ...
For example, a person with stiff-person syndrome may experience attacks of increasing stiffness or spasms while crossing the ... "Stiff-Person Syndrome and Generalized Anxiety Disorder". Arquivos de Neuro-Psiquiatria. 68 (4): 659-661. doi:10.1590/S0004- ... The fear of crossing streets, or its terms dromophobia and agyrophobia, is a specific phobia that affects a person's ability to ... Dromophobia may be present in people, especially children, with autism, or other neurological conditions that impact the ...
A mutation in GLRA1 is responsible for some cases of stiff person syndrome. β-Alanine D-Alanine Gelsemine Glycine Hypotaurine ... Online Mendelian Inheritance in Man (OMIM): STIFF-PERSON SYNDROME; SPS - 184850 Shan Q, Haddrill JL, Lynch JW (April 2001). " ...
Furthermore, locked-in syndrome is caused by damage to the brainstem. Stiff-person syndrome and catatonia are similar in that ... However, stiff-person syndrome may be associated with anti-glutamic acid decarboxylase (anti-GAD) antibodies and other ... Sarva, Harini; Deik, Andres; Ullah, Aman; Severt, William L. (4 March 2016). "Clinical Spectrum of Stiff Person Syndrome: A ... Baizabal-Carvallo, José Fidel; Jankovic, Joseph (August 2015). "Stiff-person syndrome: insights into a complex autoimmune ...
The pattern of anti-GAD antibodies in epilepsy differs from type 1 diabetes and stiff-person syndrome. Besides the synthesis of ... Dayalu P, Teener JW (November 2012). "Stiff Person syndrome and other anti-GAD-associated neurologic disorders". Seminars in ... are well documented in association with stiff person syndrome (SPS). Glutamic acid decarboxylase is the rate-limiting enzyme in ... "High-dose intravenous immune globulin for stiff-person syndrome". The New England Journal of Medicine. 345 (26): 1870-6. doi: ...
This gene may also play a role in the stiff-person syndrome. GAD2 has been shown to interact with GAD1. Glutamate decarboxylase ...
Progressive encephalomyelitis with rigidity and myoclonus (PERM) - A kind of stiff person syndrome. AIDS-related ... Chronic fatigue syndrome, sometimes called myalgic encephalomyelitis. Acute disseminated encephalomyelitis at NIH's Office of ...
The main neurological syndromes associated with anti-GAD antibodies include stiff-person syndrome, cerebellar ataxia, epilepsy ... stiff-person syndrome and prodromal diarrhea of unknown etiology. In addition, they may have symptoms of dysautonomia including ... "Glycine receptor antibodies in stiff-person syndrome and other GAD-positive CNS disorders". Neurology. 81 (22): 1962-1964. doi: ... in patients with progressive encephalomyelitis with rigidity and myoclonus and later in patients with stiff-person syndrome. ...
Myotonia Jumping Frenchmen of Maine Latah Stiff-person syndrome Beers, Mark H. MD (2006). The Merck Manual (16th ed.). ... There are three signs used to diagnose if an infant has hereditary hyperekplexia: if the child's body is stiff all over as soon ... Kok and Bruyn reported an unidentified hereditary syndrome, which initially presented as hypertonia in infants. Genetic ... "Startle Syndromes". Lancet Neurology. 5 (6): 513-524. doi:10.1016/S1474-4422(06)70470-7. PMID 16713923. S2CID 24056686. van de ...
"Céline Dion Cancels All Concerts Scheduled Until April 2024 After Stiff Person Syndrome Diagnosis". People. United States. ISSN ... "Celine Dion says she has stiff person syndrome, cancels and reschedules 2023 tour dates". usatoday.com. McIntosh, Steven (26 ... citing Dion's on-going recovery from stiff-person syndrome. In a statement, Dion expressed: "I'm so sorry to disappoint all of ... citing her diagnosis with stiff-person syndrome. On May 26, 2023, it was announced the remaining European concerts were ...
And if a person produces auto-antibodies against gephyrin, this can even result in stiff person syndrome. At some point in ... In animal models, a total lack of gephyrin results in stiff muscles and death immediately after birth. Stiff muscles are also a ... "Autoimmunity to gephyrin in Stiff-Man syndrome". Neuron. 26 (2): 307-12. doi:10.1016/S0896-6273(00)81165-4. PMID 10839351. ...
It is also the first line of defense for a rare disorder called stiff-person syndrome. Diazepam is a medication with a high ... Palliative treatment of stiff person syndrome Pre- or postoperative sedation, anxiolysis or amnesia (e.g., before endoscopic or ... Floppy infant syndrome and sedation in the newborn may also occur. Symptoms of floppy infant syndrome and the neonatal ... In some people, diazepam may increase the propensity toward self-harming behavior and, in extreme cases, may provoke suicidal ...
A subset of patients with stiff person syndrome who were also affected by breast cancer are positive for autoantibodies against ... David C, Solimena M, De Camilli P (August 1994). "Autoimmunity in stiff-Man syndrome with breast cancer is targeted to the C- ... "Entrez Gene: AMPH amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)". Micheva KD, Kay BK, McPherson PS ( ... December 1993). "The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of Stiff-Man syndrome with ...
Glycine receptor Stiff person syndrome Hyperekplexia GRCh38: Ensembl release 89: ENSG00000145888 - Ensembl, May 2017 GRCm38: ... "Entrez Gene: GLRA1 glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome)". Tijssen MA, Shiang R, van ... Vergouwe MN, Tijssen MA, Shiang R, van Dijk JG, al Shahwan S, Ophoff RA, Frants RR (1998). "Hyperekplexia-like syndromes ... Mutations in the gene have been associated with hyperekplexia, a neurologic syndrome associated with an exaggerated startle ...
... and her first new music since her stiff-person syndrome diagnosis in December 2022. Gil Kaufman from Billboard described it as ... People. Retrieved 13 April 2023. "Céline Dion - I'll Be (Official Lyric Video)". YouTube. 5 May 2023. Retrieved 5 May 2023. ...
... first new music in four years and since she revealed in December 2022 that she has been struggling with stiff-person syndrome. ... People. Retrieved 14 April 2023. "Hot Canadian Digital Song Sales". Billboard. Retrieved 26 April 2023. "Official Singles ...
... stiff person syndrome, systemic lupus erythematosus and thyroiditis. One-third to one-half of all persons with thymoma have no ... A third of all people with a thymoma have symptoms caused by compression of the surrounding organs by an expansive mass. These ... pure red cell aplasia and Good syndrome (thymoma with combined immunodeficiency and hypogammaglobulinemia). Other reported ... nephrotic syndrome, panhypopituitarism, pernicious anemia, polymyositis, rheumatoid arthritis, sarcoidosis, scleroderma, ...
... stiff person syndrome, multiple sclerosis and myasthenia gravis) some acute infections and some complications of organ ... It is used to treat the following conditions: primary immunodeficiency syndromes (PID, when people are born with an inability ... Use is not recommended in people with some types of IgA deficiency. Use appears to be relatively safe during pregnancy. Human ... It has been hypothesized that hyperimmune serum may be an effective therapy for persons infected with the Ebola virus. In the ...
... first new music in four years and since she revealed in December 2022 that she has been struggling with stiff-person syndrome. ...
Stiff person syndrome is a neurologic disorder caused by anti-GAD antibodies, leading to a decrease in GABA synthesis and, ...
... the defining personality trait of Highly Sensitive Persons (HSPs) Stiff person syndrome, a rare neurologic disorder Syntactic ...
At the age of 39 she was diagnosed with stiff person syndrome (SPS), a neurological disease that results in her needing to use ... Living people, 1962 births, People from Belleville, New Jersey, People from Point Pleasant, New Jersey, Point Pleasant Borough ... I don't think people realize how difficult the sport really is," she has remarked. At the 2008 World Wheelchair Curling ...
Isaacs Syndrome) Schwartz-Jampel syndrome Stiff person syndrome Brody myopathy (Brody Disease, Brody's Disease, Brody's ... For example, if a person has not spoken for awhile and then wants to speak, their tongue may be stiff at first causing the ... If this person plays any kind of a sport, a good warm-up is mandatory. Otherwise if they need to quickly and intensively use ... People with Becker disease often experience temporary attacks of muscle weakness, particularly in the arms and hands, brought ...
... stiff-person syndrome MeSH C20.111.258.925 - uveomeningoencephalitic syndrome MeSH C20.111.258.962 - vasculitis, central ... Guillain-Barré syndrome MeSH C20.111.258.750.400.500 - Miller Fisher syndrome MeSH C20.111.258.750.600 - hereditary sensory and ... Sézary syndrome MeSH C20.683.515.950 - tumor lysis syndrome MeSH C20.683.780.250 - cryoglobulinemia MeSH C20.683.780.490 - ... Schnitzler syndrome MeSH C20.683.780.650 - multiple myeloma MeSH C20.683.780.750 - POEMS syndrome MeSH C20.683.780.925 - ...
... stiff joints, or sleep apnea. People with Scheie syndrome may live into adulthood. Children with Scheie Syndrome carry two ... Because Scheie syndrome is an autosomal recessive disorder, affected persons have two nonworking copies of the gene. A person ... Hunter syndrome (MPS II) Sanfilippo syndrome (MPS III) Morquio syndrome (MPS IV) "Mucopolysaccharidoses Fact Sheet". National ... People with this condition may have aortic regurgitation. The symptoms of Scheie syndrome are variable, but are milder than ...
... syndrome Stewart-Treves syndrome Stickler syndrome Sticky platelet syndrome Sticky skin syndrome Stiff person syndrome Stiff ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... Bart syndrome Barth Syndrome Bartter syndrome Bart-Pumphrey syndrome Bassen-Kornzweig syndrome Battered person syndrome Bazex- ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ...
Stiff-person syndrome (SPS), also known as stiff-man syndrome, is a rare neurologic disorder of unclear cause characterized by ... The name of the disease was shifted from "stiff-man syndrome" to the gender-neutral "stiff-person syndrome" in 1991. In 1963, ... ISBN 978-0-12-417127-5. The stiff-man syndrome (SMS, also known as stiff-person syndrome) is a rare central nervous system ... Dalmau, Rosenfeld & Graus 2022, "Paraneoplastic Stiff-Person Syndrome". "Paraneoplastic Syndromes , National Institute of ...
Stiff person syndrome is rather unique among neurologic diagnoses because of its lack of significant similarity to any other ... encoded search term (Stiff Person Syndrome) and Stiff Person Syndrome What to Read Next on Medscape ... In 1956, Moersch and Woltmann, who also coined the term stiff man syndrome, first clearly described stiff person syndrome as a ... stiff limb syndrome). [5, 6, 7, 8, 9, 4] Signs and symptoms. Stiff person syndrome usually begins insidiously in the axial ...
Before her Stiff-person syndrome diagnosis, Celine went through health problems that affected her world tours. ... Celine Dions Health Issues: My Heart Will Go On Singer Suffered Other Conditions Before Stiff-Person Syndrome Diagnosis. ... Celine Dion Praying for a Remedy to Awful Stiff Person Syndrome, Says Her Sister: Shes Doing Everything to Recover ... Stiff-person syndrome.. Although she hoped to return as soon as possible, Dion and her team ultimately canceled the remaining ...
COVID-19 Vaccines Do Not Cause Stiff Person Syndrome. Many anti-vaccination activists are pointing out that Stiff Person ... COVID-19 Vaccines Do Not Cause Stiff Person Syndrome. Many anti-vaccination activists are pointing out that Stiff Person ... Celine Dion finally revealed she has stiff person syndrome, which is so rare, its only found in 1 in a million people. Did she ... Celine Dion is now suffering from Stiff Person Syndrome.. A side effect of the "vaccines". She allowed only vaxxed people into ...
While shes been staying out of the public eye as shes handling Stiff-Person Syndrome, Celine Dion made a rare appearance at ... Related: Celine Dion Released Her First New Music Since Being Diagnosed With Stiff Person Syndrome ... Celine Dion Made a Rare Public Appearance Amid Stiff-Person Syndrome Diagnosis. ...
On Thursday, Claudette, 74, spoke to Hello! Canada about her sisters recovery since being diagnosed with stiff-person syndrome ... The condition, according to the Stiff Person Syndrome Foundation, affects the central nervous system, specifically the brain ... Dion first revealed that she was diagnosed with stiff-person syndrome in December in an Instagram video. ... Never miss a story - sign up for PEOPLEs free daily newsletter to stay up-to-date on the best of what PEOPLE has to offer, ...
What is Stiff Person Syndrome? While considered a neuromuscular disease, SPS also has autoimmune and inflammatory components. ... Please help support awareness and the search for a cure for Stiff Person Syndrome. ... Just a few years later, surgery was performed on both wrists to relieve carpal tunnel syndrome from "Double-Crush Syndrome." ...
... mother and the Founder and President of The Stiff Person Syndrome Research Foundation, where the vision is that all people with ... Tara Zier - Stiff Person Syndrome Research Foundation and Finding Your Purpose. Tara Zier is a rare disease patient, ... I came into the rare disease space because I have a rare disease called Stiff Person Syndrome (SPS), which is a rare ... The Stiff Person Syndrome Research Foundation - https://stiffperson.org/. SPSRF on Facebook - https://www.facebook.com/TheSPSRF ...
... has reportedly sold her US home and is moving back to Canada to surround herself with family as she continues to battle Stiff ... Celine Dion can barely move as she sells home amid Stiff Person Syndrome battle. 16 June 2023, 11:50 , Updated: 16 June 2023 ... The performer, 55, revealed in December 2022 that she was battling a rare neurological disorder named Stiff Person Syndrome. ... Celine Dion latest: Likely to never sing in public again due to Stiff Person Syndrome ...
Celine Dion Postpones Tour After Being Diagnosed With Stiff Person Syndrome. "I always give 100 percent when I do my shows, but ...
Amid Stiff-Person Syndrome Battle: Singer Has Good and Bad Days. Celine Dion has grown to accept her Stiff-Person syndrome ... Celine Dion Determined To Stop Hiding Amid Stiff Person Syndrome Battle. Celine Dion is fighting her battle with Stiff Person ... What Is Stiff-Person Syndrome? Inside Celine Dions Battle With the Disorder and How Shes Doing Now ... Celine Dion revealed that she had been diagnosed with stiff-person syndrome (SPS) and had to postpone her tour dates as a ... ...
Stiff-Person Syndrome - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer Version ... Symptoms of Stiff-Person Syndrome In people with stiff-person syndrome, muscles of the trunk and abdomen gradually become ... Stiff-person syndrome (formerly called stiff-man syndrome) affects mainly the brain and spinal cord (the central nervous system ... In stiff-person syndrome, these antibodies attack nerve cells in the spinal cord that control muscle movement. Most people with ...
... stiff-person syndrome symptoms: sister. Céline Dion is "praying for a miracle" as she contends with stiff-person syndrome, her ... Celine Dions Family Reveals She Is Dying of Stiff-Person Syndrome?. The family of Grammy-winning singer Celine Dion revealed ... Celine Dion and her loved ones have offered health updates amid her battle with stiff-person syndrome. Dion revealed in ... Celine Dions sister calls her a strong woman amid the singers struggle with Stiff Person Syndrome ...
Review of 23 patients affected by the stiff man syndrome: clinical subdivision into stiff trunk (man) syndrome, stiff limb ... Stiff-person syndrome: insights into a complex autoimmune disorder. José Fidel Baizabal-Carvallo et al., Journal of Neurology, ... Glutamic acid decarboxylase (GAD) antibody-positive paraneoplastic stiff person syndrome associated with mediastinal ... Antiglycine receptor-related stiff limb syndrome in a patient with chronic lymphocytic leukaemia. Angelika Derksen et al., BMJ ...
More than 300 million people are affected by these diseases at some point in their lives, which adds up to about the population ... stiff person syndrome ...
Living with Stiff Person for 30+ years. Medical articles, informative resources, my story, & social media links. ...
What is Stiff-Person Syndrome? Stiff-person syndrome (SPS) is a rare neurological disorder. It is characterized by muscle ... Stiff-Person Syndrome. Written by Tad. Posted in Kooks The paramedics who brought in this middle-aged patient said she ... and the patients regular doctor diagnosed her with Stiff-Person Syndrome. However, no treatment relieved her symptoms. ... en.wikipedia.org/wiki/Stiff-Person_Syndrome for more information on this amazing and sad condition. ...
... stiff-person syndrome symptoms: sister. Céline Dion is "praying for a miracle" as she contends with stiff-person syndrome, her ... Celine Dions Family Reveals She Is Dying of Stiff-Person Syndrome?. The family of Grammy-winning singer Celine Dion revealed ... Celine Dion and her loved ones have offered health updates amid her battle with stiff-person syndrome. Dion revealed in ... Celine Dions sister has opened up about the singers battle Stiff Person Syndrome. In a HELLO! Canada interview published on ...
Celine Dion health update: What is her illness Stiff Person Syndrome?. What illness does Celine Dion have and how does it ... Celine Dions Family Reveals She Is Dying of Stiff-Person Syndrome?. On Sept. 6, 2023, a supposed celebrity gossip YouTube ... Celine Dion and her loved ones have offered health updates amid her battle with stiff-person syndrome. Dion revealed in ... Céline Dions Sister Says Shes Strong amid Stiff Person Syndrome Battle: Doing Everything to Recover ...
... stiff-person syndrome symptoms: sister. Céline Dion is "praying for a miracle" as she contends with stiff-person syndrome, her ... Everything Celine Dion, Family Said About Her Stiff-Person Syndrome Battle. Celine Dion and her loved ones have offered health ... Celine Dion and her loved ones have offered health updates amid her battle with stiff-person syndrome. Dion revealed in ... Jennifer Trujillo opens up about Stiff Person Syndrome battle. A former musician has opened up about her debilitating ...
... stiff-person syndrome symptoms: sister. Céline Dion is "praying for a miracle" as she contends with stiff-person syndrome, her ... Celine Dions Family Reveals She Is Dying of Stiff-Person Syndrome?. The family of Grammy-winning singer Celine Dion revealed ... Celine Dions sister calls her a strong woman amid the singers struggle with Stiff Person Syndrome ... Céline Dions Sister Says Shes Strong amid Stiff Person Syndrome Battle: Doing Everything to Recover ...
What is stiff person syndrome-and how common is it?. Stiff person syndrome is a neurological and autoimmune disorder that can ... Celine Dions Family Reveals She Is Dying of Stiff-Person Syndrome?. On Sept. 6, 2023, a supposed celebrity gossip YouTube ... Celine Dion is "doing everything to recover" after being diagnosed with stiff-person syndrome. The 55-year-old singer was ... Celine Dion Breaks Silence On Her Stiff-Person Syndrome, Says She Is "Doing Everything" To Recover ...
... stiff-person syndrome symptoms: sister. Céline Dion is "praying for a miracle" as she contends with stiff-person syndrome, her ... Celine Dion health update: What is her illness Stiff Person Syndrome?. What illness does Celine Dion have and how does it ... Celine Dions Family Reveals She Is Dying of Stiff-Person Syndrome?. The family of Grammy-winning singer Celine Dion revealed ... Everything Celine Dion, Family Said About Her Stiff-Person Syndrome Battle. Celine Dion and her loved ones have offered health ...
What is stiff-person syndrome?. To clarify, stiff-person syndrome (SPS) is a rare, progressive neurological disorder. Read full ... The update comes 8 months after it was revealed that Dion was diagnosed with Stiff-Person Syndrome. Moreover, Claudette ...
What Is Stiff-Person Syndrome? Inside Celine Dions Battle With the Disorder and How Shes Doing Now ... Celine Dion revealed that she had been diagnosed with stiff-person syndrome (SPS) and had to postpone her tour dates as a ... ... Celine Dion determined to stop hiding amid Stiff Person Syndrome battle. The source added that with the help of her family ... What Is Stiff-Person Syndrome? Inside Celine Dions Battle With the Disorder and How Shes Doing Now ...
... It is a rare neurological disorder that impacts the nervous ... Treatment of Stiff Person Syndrome. There is no permanent cure of the Stiff Person Syndrome as of now. However, with the ... Prognosis of Stiff Person Syndrome. Even though the treatment for the Stiff Person Syndrome is available but that does no cure ... What is Stiff Person Syndrome?. Stiff Person Syndrome is a rare neurological disorder that impacts the nervous system of the ...
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What Is Stiff-Person Syndrome? Inside Celine Dions Battle With the Disorder and How Shes Doing Now ... Celine Dion revealed that she had been diagnosed with stiff-person syndrome (SPS) and had to postpone her tour dates as a ... ... Celine Dion determined to stop hiding amid Stiff Person Syndrome battle. The source added that with the help of her family ... What Is Stiff-Person Syndrome? Inside Celine Dions Battle With the Disorder and How Shes Doing Now ...
  • The family of Grammy-winning singer Celine Dion revealed in late summer 2023 that she was dying following her diagnosis of stiff-person syndrome. (bing.com)
  • Celine Dion's well-being in 2023: Battling Stiff Person Syndrome and other obstacles? (mylucena.com)
  • Earlier this year, Dion announced that she would push back her planned 2022 tour until 2023, People reports. (bestlifeonline.com)
  • Pop superstar Celine Dion's announcement that she was canceling her 2023 tour due to a diagnosis of stiff person syndrome (SPS) has focused the spotlight on this extremely rare autoimmune neurologic disorder. (utswmed.org)
  • Celine Dion's (pic) loved ones are rallying for the global superstar as she lives with stiff-person syndrome, a rare neurological disorder. (bing.com)
  • Celine Dion's Family Reveals She Is Dying of Stiff-Person Syndrome? (bing.com)
  • Celine Dion's sister, Claudette, is letting fans know the singer is working hard to get back her strength amid her battle with Stiff Person Syndrome. (bing.com)
  • Celine Dion's sister has opened up about the singer's battle Stiff Person Syndrome. (bing.com)
  • Céline Dion's sister Claudette has shared an update on the singer's health nearly eight months after she revealed she was diagnosed with stiff person syndrome. (nbcbayarea.com)
  • Céline Dion's sister, Claudette Dion, told Le Journal de Montreal via SheMazing, that the Grammy winner is not letting her stiff person syndrome diagnosis slow her down too much. (nbcbayarea.com)
  • December 2022 - Entertainment Tonight, hosted by Nischelle Turner and Kevin Fischer, break down Celine Dion's disclosure of her SPS diagnosis, including an interview with The Stiff Person Syndrome Research Foundation Founder and President, Tara Zier. (stiffperson.org)
  • On December 8, 2022, she left everyone shocked and heartbroken as she confirmed that she was officially diagnosed with a rare neurological disorder, Stiff-person syndrome . (okmagazine.com)
  • The performer, 55, revealed in December 2022 that she was battling a rare neurological disorder named Stiff Person Syndrome. (smoothradio.com)
  • March 2022 - A thoughtful interview about invisible disabilities that we hope will help the next person get a proper diagnosis, find good doctors, and discover new purpose. (stiffperson.org)
  • That was the case for Stiff Person Syndrome (SPS), a relatively unknown neurological condition until global recording star Celine Dion cancelled concerts in 2022 to deal with its symptoms. (hartfordhealthcaremedicalgroup.org)
  • The pop icon, 55, revealed in late 2022 that she had been diagnosed with stiff person syndrome, a rare neurological condition that can cause severe muscle stiffness and spasms. (mylucena.com)
  • While every person's situation is different, some people are able to manage the symptoms of stiff person syndrome, Dr. Desimir Mijatovic, a pain medicine specialist with the Cleveland Clinic in Ohio, told TODAY.com in 2022. (mylucena.com)
  • Dion revealed in December 2022 that she'd been diagnosed with stiff person syndrome and would be postponing tour dates due to the condition. (mylucena.com)
  • Dion opened up about her stiff person syndrome diagnosis in a video posted on her Instagram page in December 2022. (mylucena.com)
  • Celine Dion has made her first public appearance in more than three years amid her battle with stiff-person syndrome. (bing.com)
  • Celine Dion and her loved ones have offered health updates amid her battle with stiff-person syndrome. (bing.com)
  • People with classic SPS typically first experience intermittent tightness or aching in the muscles of the trunk. (wikipedia.org)
  • In many people with SPS, muscle rigidity eventually progresses from the trunk to the limbs - first affecting muscles closest to the trunk, then further. (wikipedia.org)
  • [ 3 , 4 ] Usually, it begins in the axial muscles and extends to the proximal limb muscles, but the severity of the limb muscle involvement may overwhelm the axial muscle involvement (stiff limb syndrome). (medscape.com)
  • Stiff person syndrome usually begins insidiously in the axial muscles. (medscape.com)
  • The condition affects one in a million people, and causes muscles to tense uncontrollably, and leaves people like 'human statues' as it locks the body into rigid positions, leaving them unable to walk or talk. (smoothradio.com)
  • Muscles gradually become stiffer and enlarge, starting in the trunk and abdomen but eventually affecting muscles throughout the body. (msdmanuals.com)
  • When less of this enzyme is produced, nerves overstimulate muscles, which become tight and stiff. (msdmanuals.com)
  • In people with stiff-person syndrome, muscles of the trunk and abdomen gradually become stiffer and enlarge. (msdmanuals.com)
  • At the later stage, proximal limb muscles get stiffed. (syndromespedia.com)
  • Low Frequency of Motor Unit Activity of agonist and antagonist muscles indicates the Stiff Person Syndrome in patients. (syndromespedia.com)
  • SPS is a progressive disorder that causes stiff muscles in the torso, arms and legs, and triggers include sensitivity to noise, touch and stress. (hartfordhealthcaremedicalgroup.org)
  • People with SPS may have overactivity in their muscles, which can cause tension and stiffness in different areas of their bodies. (com.ng)
  • People with the condition can lose the ability to walk or move around due to hyperactivity in their muscles. (com.ng)
  • Symptoms of the progressive condition may include stiff muscles in the torso, arms and legs, as well as muscle spasms that may be triggered by noises, touch or emotional distress, according to the National Institute of Neurological Disorders and Stroke . (mylucena.com)
  • One theory is that the immune system and autoantibodies causes less GABA to be available - causing overactive nerves that signal the muscles to become stiff, rigid, and continuously contract. (utswmed.org)
  • Though there is no cure for stiff person syndrome, medications to help relax the muscles - and in more severe cases, immunotherapy - can help patients manage their symptoms and return to regular activities - whether that's returning to work, playing with the grandkids, or singing on stage. (utswmed.org)
  • SPS is characterized by dramatically stiff muscles in the back, chest, abdomen, or arms and legs. (utswmed.org)
  • Tara Zier is a rare disease patient, mother and the Founder and President of The Stiff Person Syndrome Research Foundation, where the vision is that all people with Stiff Person Syndrome (SPS) receive a prompt diagnosis, compassionate care, effective treatments and a cure. (mitoaction.org)
  • Was Celine Dion forced to attend her son's wedding in a wheelchair after suffering from Stiff Person Syndrome? (techarp.com)
  • People are sharing TikTok and YouTube videos which claim to show Celine Dion attending her son's wedding in a wheelchair, after being diagnosed with Stiff Person Syndrome . (techarp.com)
  • Singer Celine Dion attending her son's wedding, she was diagnosed with a rare neurological condition known as stiff-person syndrome. (techarp.com)
  • It was only recently that the muscle spasms Celine Dion was suffering from was diagnosed as Stiff Person Syndrome (SPS) - a rare neurological disorder with features of an autoimmune disease. (techarp.com)
  • Just to be clear, Celine Dion is not suffering from ALS, but from SPS - Stiff Person Syndrome. (techarp.com)
  • While she's been staying out of the public eye as she's handling Stiff-Person Syndrome, Celine Dion made a rare appearance at an ice hockey game in her adopted home of Las Vegas. (yahoo.com)
  • Earlier this year, a source told PEOPLE that Dion, 55, was 'doing everything she can' to be healthy enough to get back onstage after canceling her concert dates through April 2024. (yahoo.com)
  • Dion first revealed that she was diagnosed with stiff-person syndrome in December in an Instagram video. (yahoo.com)
  • Celine Dion has reportedly sold her US home and is moving back to Canada to surround herself with family as she continues to battle Stiff Person Syndrome. (smoothradio.com)
  • Celine Dion is fighting her battle with Stiff Person Syndrome and has recently made public appearances. (bing.com)
  • Celine Dion is finally feeling better and has things under control after Stiff-Person syndrome diagnosis last year. (bing.com)
  • Fact Check: Family of Celine Dion Announced She Is Dying of Stiff-Person Syndrome? (bing.com)
  • Céline Dion is "praying for a miracle" as she contends with stiff-person syndrome, her sister Claudette said. (bing.com)
  • Celine Dion has performed in public for the first time since she revealed she was diagnosed with the rare neurological disease stiff person syndrome (SPS). (bing.net)
  • Celine Dion marked a rare public appearance by unexpectedly performing "a few notes" for the first time since her stiff-person syndrome diagnosis last year. (bing.com)
  • Celine Dion health update: What is her illness Stiff Person Syndrome? (bing.com)
  • Celine Dion is "doing everything to recover" after being diagnosed with stiff-person syndrome. (bing.com)
  • The update comes 8 months after it was revealed that Dion was diagnosed with Stiff-Person Syndrome. (holrmagazine.com)
  • Céline Dion dropped a new song for the upcoming movie Love Again, which is her first musical release since sharing her diagnosis with stiff-person syndrome. (nbcbayarea.com)
  • In an emotional video on Instagram, Celine Dion reveals she has stiff-person syndrome. (nbcbayarea.com)
  • Céline Dion Has Stiff-Person Syndrome. (stiffperson.org)
  • Céline Dion opens up about having Stiff Person Syndrome. (stiffperson.org)
  • My Heart Will Go On superstar, Celine Dion has cancelled her world tour after revealing she's suffering from an incurable disease called 'stiff-person syndrome', an extremely rare neurological disorder. (netmums.com)
  • The Canadian singer Celine Dion revealed that she is diagnosed with a very rare neurological disorder, stiff person syndrome. (powdersvillepost.com)
  • Will Celine Dion Still Be Able to Perform With Stiff Person Syndrome? (com.ng)
  • In a heartfelt interview with Canadian publication Le Journal de Montréal, Claudette Dion, the sister of the renowned singer Celine Dion, shared a recent update on Celine's health as she continues to grapple with stiff-person syndrome, a rare and challenging neurological disorder characterized by muscle rigidity and spasms. (totalheadline.com)
  • Céline Dion delighted her fans as she sang during a hockey game despite her stiff-person syndrome diagnosis. (bunady.com)
  • But in a shocking announcement on social media, the singer just told fans that she had been diagnosed with a rare neurological condition known as Stiff Person Syndrome, keeping her from performing some upcoming concert dates she has scheduled. (bestlifeonline.com)
  • There's little we can do to support her, to alleviate her pain," said the singer's older sister Claudette Vanessa Etienne is an Emerging Content Writer-Reporter for PEOPLE. (bing.com)
  • Canada for an interview published on Thursday, Claudette, 74, gave an update on her sister's recovery from stiff person syndrome. (bing.com)
  • Despite the absence of a cure for stiff-person syndrome, Claudette remains hopeful and appreciates the top-notch research Celine is following in the field of this rare disease. (totalheadline.com)
  • Stiff-person syndrome (SPS), also known as stiff-man syndrome, is a rare neurologic disorder of unclear cause characterized by progressive muscular rigidity and stiffness. (wikipedia.org)
  • Please help support awareness and the search for a cure for Stiff Person Syndrome. (rarediseaseday.org)
  • While there is currently no cure for stiff-person syndrome, medical treatments involving specific antibody injections, anti-anxiety medications, and muscle relaxants have proven helpful in managing the symptoms of the disorder. (totalheadline.com)
  • There is no cure for stiff person syndrome, although symptoms may be kept under control with certain drugs, as well as physical, occupational and aqua therapy, according to Yale Medicine . (mylucena.com)
  • The diagnosis of stiff-person syndrome is suggested by symptoms. (msdmanuals.com)
  • Diagnosis of Stiff Person Syndrome can be very complex and confusing as well. (syndromespedia.com)
  • Physical examination can also be helpful for the diagnosis of Stiff Person Syndrome. (syndromespedia.com)
  • Paraneoplastic neurologic syndromes include many neurologic disorders including paraneoplastic cerebellar degeneration (PCD) caused by an immune-mediated mechanism other than a metastatic complication in patients with an underlying malignancy. (medscape.com)
  • I think all four really stress a focus on antibody-mediated neurologic syndromes. (medscape.com)
  • She has stiff-person syndrome (SPS), an extremely rare neurological disorder, and as a result, she canceled her European tour. (stiffperson.org)
  • Variants of the condition, such as stiff-limb syndrome which primarily affects a specific limb, are often seen. (wikipedia.org)
  • A minority of people with SPS experience "partial" SPS, also called "stiff-limb syndrome", where the muscle contractions and stiffness are limited to the limbs, or sometimes a single limb. (wikipedia.org)
  • Sphincter and brainstem issues often occur with stiff-limb syndrome. (wikipedia.org)
  • Through an emotional video shared on Instagram, the Grammy-winning artist bravely disclosed her rare neurological disorder, which affects only one in a million people. (totalheadline.com)
  • I miss you all so much and can't wait to be on stage talking to you in person," she said in the Instagram video. (bunady.com)
  • Paraneoplastic syndromes are a group of rare disorders that are triggered by an abnormal immune system response to an underlying (usually undetected) malignant tumor. (medscape.com)
  • Patients with paraneoplastic neurological syndrome (PNS) most often present with neurologic symptoms before an underlying tumor is detected. (medscape.com)
  • However, the oncologic outcome of patients with antibody-associated paraneoplastic syndromes does not significantly differ from that of patients who do not have the antibodies or a paraneoplastic syndrome. (medscape.com)
  • An association between paraneoplastic cerebellar degeneration and occult gynecologic cancers (breast or ovarian) was first identified in 1938, and the syndrome was described fully by Brain in 1951. (medscape.com)
  • however, in a clinical presentation consistent with a paraneoplastic neurologic syndrome, the chances of underlying malignancy are very high. (medscape.com)
  • Stiff person syndrome is a rare disease characterized by muscle rigidity that waxes and wanes with concurrent spasms. (medscape.com)
  • Recently I've been diagnosed with a very rare neurological disorder called Stiff Person Syndrome which affects something like one-in-a-million people. (techarp.com)
  • about her sister's recovery since being diagnosed with stiff-person syndrome , a rare and incurable neurological disease that can cause debilitating muscle spasms. (yahoo.com)
  • I came into the rare disease space because I have a rare disease called Stiff Person Syndrome (SPS), which is a rare neurological disease with autoimmune features. (mitoaction.org)
  • Stiff-person syndrome (SPS) is a rare neurological disorder. (badtadmd.com)
  • Stiff-person syndrome is a rare and progressive neurological disorder, according to the National Institute of Neurological Disorders and Stroke (NINDS). (bing.net)
  • Stiff Person Syndrome is a rare neurological disorder that impacts the nervous system of the body. (syndromespedia.com)
  • To clarify, stiff-person syndrome (SPS) is a rare, progressive neurological disorder. (holrmagazine.com)
  • Karen Long Cecil (pictured), moderator of the SPS Facebook group Stiff Person Syndrome The Official UK and Ireland Support Group , is backing an appeal an NHS appeal for people to register as plasma donors to mark Rare Disease Day [February 28]. (wixsite.com)
  • Stiff Person Syndrome (SPS) is a rare, progressive neurological disorder primarily characterized by muscle stiffness, spasms, and functional impairment. (pharmacreations.com)
  • Sometimes all it takes to raise awareness of a rare disease is for a famous person to announce they have it. (hartfordhealthcaremedicalgroup.org)
  • The Canadian singer cancelled her tour after being struck by a rare condition that affects just one in a million people. (netmums.com)
  • It's so rare that it's not something that most people who present with difficulty walking or muscle pain will end up having. (com.ng)
  • Stiff person syndrome (SPS) is a rare condition that can impair one's ability to perform daily tasks. (com.ng)
  • Stiff person syndrome is a very rare condition that causes severe muscle stiffness and spasms in the back or limbs. (utswmed.org)
  • Illness and diseases are common in the US, but did you know there are some extremely rare diseases that only a few people develop? (bewellbuzz.com)
  • In the USA, a rare disease is one that affects fewer than 200,000 people. (bewellbuzz.com)
  • People with extremely rare diseases are often left facing an incurable disease simply because the funding is not in place to discover more about the condition and potential treatments. (bewellbuzz.com)
  • Although there are different ways for an extremely rare disease to develop, it's common that they have no treatment, and people have to manage the symptoms as best they can. (bewellbuzz.com)
  • Ochoa syndrome is a rare disease that's best known for the unusual facial expressions it creates. (bewellbuzz.com)
  • This syndrome is an extremely rare progressive disease that causes spasms, rigidity, and muscle stiffness. (bewellbuzz.com)
  • Stiff-person syndrome causes muscle stiffness that worsens gradually. (msdmanuals.com)
  • Usually, stiff-person syndrome progresses, leading to disability and stiffness throughout the body. (msdmanuals.com)
  • In the later stage of Stiff Person Syndrome, the muscle stiffness may spread all over the body. (syndromespedia.com)
  • The patients suffering from the Stiff Person Syndrome generally live with the muscle pain and stiffness. (syndromespedia.com)
  • Intravenous immunoglobulin (IVIg), a type of antibody treatment, has also been shown to reduce stiffness, sensitivity to noise, touch, and stress for people with SPS.Usually, patients will start with one of the oral medications and then transition to an IVIg treatment over time, Stoll explained. (com.ng)
  • He said that people who have difficulty walking or experience muscle stiffness shouldn't assume they have SPS right away. (com.ng)
  • The clinical features of muscle stiffness in SJS type I somewhat resemble those seen in myotonic disorders, stiff person syndrome, and Isaacs syndrome. (medscape.com)
  • The stiffness does not disappear with sleep or benzodiazepine treatment (as in stiff person syndrome), and it is not abolished reliably with curare (as in Isaacs syndrome). (medscape.com)
  • The most common symptom of the Stiff Person Syndrome is the initial axial muscle rigidity and pain. (syndromespedia.com)
  • Stiff-person syndrome often occurs in people with type 1 diabetes, certain autoimmune disorders, or certain kinds of cancer. (msdmanuals.com)
  • Stiff-person syndrome (formerly called stiff-man syndrome) affects mainly the brain and spinal cord (the central nervous system), but it causes symptoms similar to those of some peripheral nerve disorders. (msdmanuals.com)
  • I was wondering if stiff-person syndrome is related to some other brain disorders. (mayoclinic.org)
  • I know that ALS, alzheimers, parkinsons are nerve degenerative disorders and treatment with L-serine is now under clinical tests that look very promising… Does anyone know if this could help stiff person? (mayoclinic.org)
  • I'm hoping someone more knowledgeable about stiff person syndrome can provide some information on your question is it related to other brain disorders. (mayoclinic.org)
  • Most people with stiff-person syndrome have antibodies that attack an enzyme called glutamic acid decarboxylase. (msdmanuals.com)
  • The level of Glutamic Acid Decarboxylase (GAD) actually indicates the Stiff Person Syndrome. (syndromespedia.com)
  • The features of the disorder are abnormal postures, hunched and stiffed. (syndromespedia.com)
  • Stiff person syndrome is a neurological and autoimmune disorder that can cause excruciating muscle spasms and rigidity. (bing.com)
  • SPS, also called Moersch-Woltmann syndrome, is a neurological disorder that causes muscle spasms and rigidity. (com.ng)
  • Up to 80% of people with stiff person disorder have GAD autoantibodies in their blood. (utswmed.org)
  • In 1956, Moersch and Woltmann, who also coined the term stiff man syndrome , first clearly described stiff person syndrome as a neurologic clinical entity at the Mayo Clinic. (medscape.com)
  • Doctors suspect stiff-person syndrome based on symptoms but use electromyography and blood tests to help confirm the diagnosis. (msdmanuals.com)
  • Apart from it Electromyography is an important tool to diagnose Stiff Person Syndrome. (syndromespedia.com)
  • People with stiff person syndrome may develop hunched postures and may struggle to walk or move. (mylucena.com)
  • [ 2 ] The eponym for this syndrome, Moersch-Woltmann syndrome, is one of the few instances in which the eponym may be the most inclusive and at the same time the most appropriately limiting name for the disease. (medscape.com)
  • perhaps stiff individual most perfectly describes the affected patient. (medscape.com)
  • The patient suffering from Stiff Person Syndrome may not walk properly or move. (syndromespedia.com)
  • The patient suffering from Stiff Person Syndrome show deprived sleep and also Rapid Eye Movement (REM) can be experienced. (syndromespedia.com)
  • It also reduces the sensitivity of noise, touch and stress among the patient suffering from Stiff Person Syndrome. (syndromespedia.com)
  • Life Expectancy of the patient suffering from the Stiff Person Syndrome is dependent on the criticality of the syndrome. (syndromespedia.com)
  • The latest updates from The SPSRF -- onboarding with NORD for the patient registry, the Northeast Stiff Person Syndrome Awareness Annual Conference, Super-75 Campaign, and more! (stiffperson.org)
  • Would funding support the launch of a patient contact registry for persons with Stiff Person Syndrome? (cdc.gov)
  • Notably, stiff-person syndrome is a progressive ailment that can become debilitating if left unmanaged. (totalheadline.com)
  • she canceled all her live appearances due to her battle with stiff-person syndrome. (bing.com)
  • Clinically, stiff person syndrome is characterized by muscle rigidity that waxes and wanes with concurrent spasms. (medscape.com)
  • Treatment of stiff-person syndrome focuses on relieving symptoms. (msdmanuals.com)
  • Even though the treatment for the Stiff Person Syndrome is available but that does no cure the syndrome. (syndromespedia.com)
  • @sanghamitra Treatment for stiff person syndrome is based on your symptoms. (reanfoundation.org)
  • [ 1 ] These syndromes are difficult to diagnose and respond poorly to treatment. (medscape.com)
  • In stiff-person syndrome, these antibodies attack nerve cells in the spinal cord that control muscle movement. (msdmanuals.com)
  • and blood tests to detect the antibodies that are present in many people with stiff-person syndrome. (msdmanuals.com)
  • Finally, a blood test came back positive for Anti-GAD 65 antibodies, and the patient's regular doctor diagnosed her with Stiff-Person Syndrome. (badtadmd.com)
  • The exact role of the GAD enzyme and GAD antibodies in stiff person syndrome isn't fully understood - approximately 20% of patients with the condition do not have GAD antibodies. (utswmed.org)
  • Conversely, many people with GAD antibodies don't have SPS (for example, millions of people with Type 1 diabetes in the U.S. likely have GAD antibodies). (utswmed.org)
  • Specific forms of this syndrome often are associated with specific antineuronal antibodies and tumors. (medscape.com)
  • Therefore, detection of these antibodies greatly assists the diagnosis of this syndrome and prompts investigations for the underlying tumor. (medscape.com)
  • High titers in the patient's serum and cerebrospinal fluid (CSF) of autoantibodies directed against both neurons and tumor have been detected in some forms of this syndrome. (medscape.com)
  • The condition, according to the Stiff Person Syndrome Foundation , affects the central nervous system, specifically the brain and spinal cord. (yahoo.com)
  • Check out http://en.wikipedia.org/wiki/Stiff-Person_Syndrome for more information on this amazing and sad condition. (badtadmd.com)
  • Am interested in connecting with people who have this or are significant others of people who have this condition. (mayoclinic.org)
  • A lot of people are able to make recovery to the point that their condition is stable. (mylucena.com)
  • This is a condition where a person is born with organs situated on the opposite side of the body. (bewellbuzz.com)
  • The range of diseases encountered includes seizures, cerebellar dysfunction, cortical dysfunction, and myelopathy, but the association between function of the enzyme and the consequence of the disease is most clear in patients with stiff person syndrome. (medscape.com)
  • she hasn't made a public appearance in nearly four years, People reports. (popsugar.com)
  • Stiff person syndrome is rather unique among neurologic diagnoses because of its lack of significant similarity to any other neurologic diseases. (medscape.com)
  • More than 300 million people are affected by these diseases at some point in their lives, which adds up to about the population of the United States! (csipharmacy.com)
  • Autoimmune diseases do tend to run in families, which means that certain genes may make some people more likely to develop a problem. (medlineplus.gov)
  • Endocrinologists were excited by a discovery in the 1980s of an antibody to a 65-kd protein that was strongly associated with adult-onset diabetes mellitus and stiff person syndrome. (medscape.com)
  • Can you share what The Stiff Person Syndrome Research Foundation is doing right now? (mitoaction.org)
  • He joined the medical advisory board of the national Stiff Person Syndrome Research Foundation, a group focused on collecting cases in a registry to power research into therapeutic treatments. (hartfordhealthcaremedicalgroup.org)
  • SPS occurs in about one in a million people and is most commonly found in middle-aged people. (wikipedia.org)
  • According to the Stiff Person Syndrome Foundation, it's described as "a neurological disease with autoimmune features" with symptoms including "muscle spasms, hyper-rigidity, debilitating pain, and chronic anxiety. (bestlifeonline.com)
  • People with SPS can be too disabled to walk or move, or they are afraid to leave the house because street noises, such as the sound of a horn, can trigger spasms and falls. (bestlifeonline.com)
  • Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. (cdc.gov)
  • Muscle rigidity is the major reason for pain and problem for Stiff Person Syndrome. (syndromespedia.com)
  • Apart from it anti anxiety drugs, muscle relaxants, anti convulsants and pain relief drugs are used as part of the support programme for the Stiff Person Syndrome patients. (syndromespedia.com)
  • People may also fall more frequently because they lack the muscle reflexes to catch themselves, which can lead to injury. (mylucena.com)
  • Stiff person syndrome isn't curable but can be managed with muscle relaxants, physiotherapy, and exercise. (bewellbuzz.com)