Stimulation single fibre EMG study in a patient with Schwartz-Jampel syndrome.
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چکیده
منابع مشابه
patient with Schwartz - Jampel syndrome . Stimulation single fibre EMG study in a
nystagmus, dislocation of the left lens in the vitreous humour, and multiple retinal atrophic lesions were also found. An IQ of 49 was found on the Wechsler adult intelligence scale.4 The neurological clinical examination showed cerebellar ataxia with limb and truncal ataxia and ataxic gait; also in this patient, mild hypertonia of the lower limbs, brisk tendon reflexes, and Babinski's sign on ...
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A 13-year-old boy presented with the overall phenotypic and genotypic characterisation of Schwarz-Jampel syndrome (SJS). Windswept deformity was a major orthopaedic abnormality. Prompt diagnostic measures were applied to this patient associated with several orthopaedic procedures to move closer to acceptable appearance and function.
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This is a report of a very rare case of Schwartz Jampel syndrome, with few unusual findings, in a 13 years girl from Nepal, who concurrently also had superotemporal subluxation of the crystalline lens along with blepharophimosis syndrome.
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Schwartz-Jampel syndrome is a rare autosomal recessive disorder. Joint contractures, generalised myotonia, skeletal anomalies, and facial dysmorphism are common features; malignant hyperthermia is a potentially lethal complication during anaesthesia.
متن کاملThe Schwartz-Jampel Syndrome. A Minireview
The Schwartz-Jampel Syndrome (SJS) is a very rare condition characterised by Constant fìndings such as typical facial appearance, muscle hypertrophy and continuous muscle activity. Other fìndings are more or less frequently associated, especially skeletai abnormalities, including dwarfism or anyway short stature. The Authors review thè literature about this condition analysing thè clinical pict...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1996
ISSN: 0022-3050
DOI: 10.1136/jnnp.61.4.425