Stiff-arm syndrome.
Ontology highlight
ABSTRACT:
SUBMITTER: Urrea-Mendoza E
PROVIDER: S-EPMC4603594 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Publications
Stiff-arm syndrome.
Urrea-Mendoza Enrique E Kanter Daniel D Revilla Fredy J FJ Dornoff Eric E Espay Alberto J AJ
Neurology 20150901 12
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Project description:Stiff limb syndrome (SLS) is a focal variant of the spectrum of stiff person syndrome. Its presentation with stiffness, limb posturing, and freezing-of-gait (FOG)-like episodes, together with the relative rareness of the disorder, make it conceivable that SLS might be misdiagnosed as atypical parkinsonism, in particular, corticobasal syndrome (CBS). To illustrate this, we present two cases of established SLS resembling CBS and discuss the distinguishing features that may alert the clinician to the correct diagnosis, with its obvious therapeutic and prognostic implications.
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Project description:ImportanceReports of pediatric-onset stiff-man syndrome (SMS) are rare. This may be an underrecognized disorder in child neurology practice.ObjectiveTo 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, ≤ 0.02 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 relevanceChildhood-onset SMS is a rare but underrecognized and treatable disorder. Serological and electrophysiological testing aid diagnosis.
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Project description:Both isolated axial dystonia and stiff person syndrome (SPS) are rare conditions that can look deceivingly similar. Here, we present three cases of axial dystonia resembling SPS with video documentation in order to illustrate the phenomenological similarities. We discuss clinical and paraclinical approaches to help distinction with its obvious implications for further management.
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Project description:First described in 1956, stiff person syndrome is characterized by episodes of slowly progressive stiffness and rigidity in both the paraspinal and limb muscles. Although considered a rare disorder, stiff person syndrome is likely to be under-diagnosed due to a general lack of awareness of the disease in the medical community.A 27-year-old Hispanic woman presented to our emergency department with a sudden onset of shortness of breath and difficulty moving her right arm. Her physical examination was remarkable in that her abdomen was firm to palpation and her right upper extremity was rigid on passive and active ranges of motion. Her right fingers were clenched in a fist. Her electromyography findings were consistent with stiff person syndrome in the right clinical setting. Stiff person syndrome is confirmed by testing for the anti-glutamic acid decarboxylase antibody. Her test for this was positive.Stiff person syndrome may not be a common condition. However, if disregarded in the differential diagnosis, it can lead to several unnecessary tests being carried out causing a delay in treatment. This case report reveals some of the characteristic features of stiff person syndrome with an atypical presentation.
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Project description:IntroductionStiff-person syndrome (SPS) is manifested by fluctuating rigidity of axial musculature with painful episodic spasms due to simultaneous co-contraction of agonist and antagonist muscles. We present a case report and video illustrating response to treatment with rituximab.Materials and methodsCase description and video are provided. A literature search for other reports of treatment with rituximab was performed.ResultsNine cases in addition to our case were described. Substantial clinical benefit was reported in 7/9 (78%) cases. Four out of 9 (44%) cases displayed persistent anti-glutamic acid decarboxylase (GAD) antibody positivity.ConclusionRituximab is an important treatment strategy in SPS. The persistence of anti-GAD antibody positivity even with clinical remission remains to be elucidated.
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Project description:PURPOSE Stiff skin syndrome (SSS; MIM#184900) is a rare autosomal dominantly inherited Mendelian disorder characterised by thickened and stone-hard indurations of the skin, mild hypertrichosis, and limitation of joint mobility with flexion contractures. It is autosomal dominant with high penetrance and results from mutations in the fibrillin 1 (FBN1; MIM*134797) gene. Here we present the associated ocular phenotype in a two generation nonconsanguineous Northern Irish family.METHODS The affected patients underwent complete ophthalmic and orthoptic assessment and genetic testing.RESULTS All three patients had ophthalmoplegia of varying degrees. Direct sequencing of the FBN1 gene detected a heterozygous pathogenic mutation (c.4710G>C; p.Trp1570Cys) in all affected patients.CONCLUSIONS This is the first report of ophthalmoplegia in association with SSS.
| S-EPMC4709530 | biostudies-literature
Project description:BackgroundStiff-limb syndrome is part of stiff person spectrum, presenting with fluctuating gait disorders attributed to leg stiffness, spasms, and posturing. It could also manifest with anxiety and specific phobias such as pseudoagoraphobia. We aimed to describe the importance of specific gait phobia as a diagnostic clue to anti-glutamic acid decarboxylase stiff-limb syndrome.CasesWe reported on 2 cases of stiff-limb syndrome sharing a similar diagnostic path and phenomenology. Both were featured by pseudoagoraphobia, which has documented to typically cover organic conditions, and a remarkable diagnostic delay attributed to misdiagnoses. Presence of pseudoagoraphobia should not point to the diagnosis of a functional disorder-although a negative instrumental workup is documented.ConclusionsBoth cases are emblematic of the high misdiagnosis rate affecting stiff person syndrome patients. A proper diagnostic process, including the identification of a pseudoagoraphobia, should help in reaching a diagnosis and providing an early and effective treatment.
| S-EPMC7111565 | biostudies-literature
Project description:Stiff-person syndrome (SPS) is an uncommon neurological disorder characterized by significant rigidity and muscle spasms primarily affecting the truncal and proximal musculature. Furthermore, a wide-based gait with functional impairment is generally seen. High-dose benzodiazepines or baclofen are widely considered the optimal initial therapy; however, major adverse effects often preclude adequate dosing. Refractory cases may be treated with intravenous immunoglobulins (IVIG), plasma exchange, or B-cell depletion with rituximab, although these are also associated with major, sometimes fatal, adverse reactions. Several reports have validated the safety and utility of botulinum injections in this setting, yet botulinum remains markedly underutilized in this cohort. Below, a case report and review of the literature show botulinum can decrease pain and stiffness, improve gait and balance, and decrease dependence on powerful systemic treatments in this group.
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Project description:A 9-year-old female child presented with a history of falls, weight loss, diffuse leg pain, and progressive gait disorder, following 1 previous event described as a tonic-clonic seizure. She had increased thyroid volume, brisk symmetric reflexes, abnormal gait, and painful spasms of the paraspinal musculature. Thyroid function tests indicated biochemical hyperthyroidism, and thyrotropin receptor antibodies were positive. Her electromyography showed continuous activation of normal motor units of the paraspinal and proximal lower extremity muscles. The patient had a diagnosis of Graves' disease with associated stiff-person syndrome, with elevated anti-glutamic acid decarboxylase antibody levels. After intravenous immunoglobulin therapy, her ambulation was substantially improved and the symptoms of stiff-person syndrome decreased dramatically.
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