patient with Schwartz - Jampel syndrome . Stimulation single fibre EMG study in a
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چکیده
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 the left side were pre-
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onset Alzheimer ' s disease in Argentina . Apolipoprotein E polymorphism and late
seem to be the origin of spontaneous activities in our patient. Pharmacological studies support this hypothesis. Stimulation SFEMG confirmed a normal neuromuscular transmission in Schwartz-Jampel syndrome, whereas voluntary SFEMG was not helpful due to technical difficulties. Jitter studies have been performed in three previous reports of Schwartz-Jampel syndrome.2 4 However, adequate numbers o...
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A patient with scapuloperoneal atrophy of neurogenic type, in whome there was also distal sensory impairment, has been studied with conventional EMG, single fibre EMG, and muscle biopsy. This disorder, described by Davidenkow, may be a distinct entity.
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Schwartz-Jampel syndrome is a rare, inherited disorder characterized by myotonia, skeletal deformities, facial dysmorphism, and growth retardation. In this report of an adolescent male patient with Schwartz-Jampel syndrome, CT and MR imaging revealed basilar invagination, platybasia, Chiari I malformation, hyperpneumatized mastoids with intramastoid dural sinuses, platyspondyly, bulbous zygoma,...
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Schwartz-Jampel syndrome (SJS) is a rare disorder characterized by myotonia, joint contracture, facial dysmorphism and growth retardation. We present three siblings (two sisters and one brother) 19, 24 and 27 years old from consanguineous healthy parents with SJS. Their clinical features were similar to those previously described. Motor and sensory nerve conduction study (NCS) were compatible w...
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