The `Stiff Man Syndrome' in a Boy

Bowler, David

doi:10.1136/adc.35.181.289

Cited by 20 publications

(8 citation statements)

References 4 publications

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“…15-26 Six of the cases were published before SMS was first recognized as an autoimmune disease. 7 The SMS phenotypes reported were 2 patients with classic SMS and 10 patients with generalized limb and truncal disorders including 5 patients with craniocervical involvement.…”

Section: Resultsmentioning

confidence: 99%

Childhood Onset of Stiff-Man Syndrome

et al. 2013

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IMPORTANCE Reports of pediatric-onset stiff-man syndrome (SMS) are rare. This may be an underrecognized disorder in child neurology practice.OBJECTIVE To describe patients with disorders in the SMS spectrum beginning in childhood. DESIGN, SETTING, AND PARTICIPANTSThis study was a medical record review and serological evaluation conducted at child and adult neurology clinics at the Mayo Clinic, Rochester, Minnesota. Systematic review of the literature was conducted of patients who presented from 1984-2012 with onset of symptomatic SMS occurring at age 18 years or younger. MAIN OUTCOMES AND MEASURESResponse to symptomatic and immunotherapies, patient and physician reported, including modified Rankin scale. RESULTSWe identified 8 patients with childhood-onset SMS, representing 5% of patients with SMS evaluated at Mayo Clinic during a period of 29 years (4 were girls). The median age at symptom onset was 11 years (range, 1-14 years). The diagnosis in 3 patients was not established until adulthood (median symptom duration at diagnosis, 14 years; range, 0-46 years). The phenotypes encountered were: classic SMS (n = 5, involving the low back and lower extremities), variant SMS (n = 2, limited to 1 limb [with dystonic posture] or back), and progressive encephalomyelitis with rigidity and myoclonus (n = 1). Initial misdiagnoses included functional movement disorder (n = 2), generalized dystonia and parkinsonism (n = 1), and hereditary spastic paraparesis (n = 1). Six patients had 1 or more coexisting autoimmune disorders: type 1 diabetes mellitus (n = 4), thyroid disease (n = 2), and vitiligo (n = 2). Serologic study results revealed glutamic acid decarboxylase 65-IgG in all cases (median value, 754 nmol/L; range, 0.06-3847 nmol/L; normal value, Յ0.02 nmol/L) and glycine receptor antibody in 3 cases. Improvements were noted with symptomatic therapy (diazepam, 6 of 6 patients treated, and oral baclofen, 3 of 3 treated) and immunotherapy (intravenous immune globulin, 3 of 4 treated and plasmapheresis, 3 of 4 treated). The 3 patients with glycine receptor antibody all improved with immunotherapy. At last follow-up, 4 patients had mild or no symptoms, but 4 had moderate or severe residual symptoms and required maintenance symptomatic therapy (n = 5) and immunotherapy (n = 4). Ten of 12 pediatric SMS cases identified by literature review had a severe whole-body phenotype resembling progressive encephalomyelitis with rigidity and myoclonus.CONCLUSIONS AND RELEVANCE Childhood-onset SMS is a rare but underrecognized and treatable disorder. Serological and electrophysiological testing aid diagnosis.

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Section: Resultsmentioning

confidence: 99%

Childhood Onset of Stiff-Man Syndrome

et al. 2013

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“…The median age at symptom onset was 40 years (range, 5–70 years), and 5 patients had symptom onset before age 18 years . Clardy et al identified only 8 patients with pediatric‐onset SPS evaluated at the Mayo Clinic from 1984 to 2012, representing 5% of the total SPS cases during that epoch, and an additional 12 individual cases of pediatric SPS reported in the literature were summarized . The median age of onset of the Mayo Clinic pediatric patients was 11 years, half were female, and half had type 1 DM.…”

Section: Epidemiologymentioning

confidence: 99%

“…16 Clardy et al identified only 8 patients with pediatric-onset SPS evaluated at the Mayo Clinic from 1984 to 2012, representing 5% of the total SPS cases during that epoch, and an additional 12 individual cases of pediatric SPS reported in the literature were summarized. [35][36][37][38][39][40][41][42][43][44][45][46][47] The median age of onset of the Mayo Clinic pediatric patients was 11 years, half were female, and half had type 1 DM. In 1 series of GAD65 neurological patients with a broad spectrum of CNS disorders, 23% of affected patients were African-American, considerably higher than the 10% of all registered patients at that institution.…”

Section: Epidemiologymentioning

confidence: 99%

GAD65 neurological autoimmunity

2017

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The glutamic acid decarboxylase 65-kilodalton isoform (GAD65) antibody is a biomarker of autoimmune central nervous system (CNS) disorders and, more commonly, nonneurological autoimmune diseases. Type 1 diabetes, autoimmune thyroid disease, and pernicious anemia are the most frequent GAD65 autoimmune associations. One or more of these disorders coexists in approximately 70% of patients with GAD65 neurological autoimmunity. Neurological phenotypes have CNS localization and include limbic encephalitis, epilepsy, cerebellar ataxia, and stiff-person syndrome (SPS), among others. Classic SPS is a disorder on the spectrum of CNS hyperexcitability which also includes phenotypes that are either more restricted (stiff-limb syndrome) or more widespread (progressive encephalomyelitis with rigidity and myoclonus). GAD65 antibody is not highly predictive of a paraneoplastic cause for neurological disorders, but diverse cancer types have been occasionally reported. For all phenotypes, responses to immunotherapy are variable (approximately 50% improve). GAD65 autoimmunity is important to recognize for both coexisting nonneurological autoimmune associations and potential immunotherapy-response. Muscle Nerve 56: 15-27, 2017.

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“…Progressive encephalomyelitis with rigidity and myoclonus represents a form of SPS with additional autonomic and brainstem features. 1 To our knowledge, only 4 pediatric cases of SPS have been reported [12][13][14][15] but the age at onset and clinical features were variable, including axial and limb muscle involvement, trismus, 12,15 blepharospasm, and life-threatening respiratory spasms. 15 The clinical course varied between progressive 13 and fluctuating.…”

Section: Commentmentioning

confidence: 99%

Progressive Encephalomyelitis With Rigidity and Myoclonus

Damásio¹,

Leite²,

Coutinho³

et al. 2013

JAMA Neurol

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Progressive encephalomyelitis with rigidity and myoclonus is characterized by rigidity, painful muscle spasms, hyperekplexia, and brainstem signs. Recently, glycine receptor alpha 1 antibodies have been described in adult patients with progressive encephalomyelitis with rigidity and myoclonus. We describe a pediatric case. Observations: A 14-month-old child developed startleinduced episodes of generalized rigidity and myoclonus, axial hyperextension, and trismus, without impairment of consciousness. Episodes occurred during wakefulness and sleep, lasted seconds, and were accompanied by moaning, tachypnea, and oxygen desaturation. Imaging, cerebrospinal fluid, endocrine, metabolic, and genetic screening findings were normal or negative. She was treated with intravenous steroids and immunoglobulins with resolution of symptoms, but she relapsed weeks later. At this time, episodes were more severe. Glycine receptor alpha 1 antibodies were found in serum (titer of 1:200, later 1:320) and cerebrospinal fluid (titer of 1:2). Treatment was restarted with intravenous steroids and immunoglobulins, with major improvement, and she began treatment with oral steroids. She had 4 milder relapses, with improvement after treatment adjustments. Conclusions and Relevance: To our knowledge, this is the first pediatric case of progressive encephalomyelitis with rigidity and myoclonus associated with glycine receptor alpha 1 antibodies, a potentially severe but treatable antibody-mediated neurological disorder.

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The `Stiff Man Syndrome' in a Boy

Cited by 20 publications

References 4 publications

Childhood Onset of Stiff-Man Syndrome

Childhood Onset of Stiff-Man Syndrome

GAD65 neurological autoimmunity

Progressive Encephalomyelitis With Rigidity and Myoclonus

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