Distal hereditary upper limb muscular atrophy

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Distal hereditary upper limb muscular atrophy.

OBJECTIVES To identify the clinical, electrophysiological, and genetic characteristics of a family with an unusual form of hereditary motor neuron disease. METHODS Surviving members of a pedigree in which affected members presented with weakness and atrophy of distal musculature in the upper limbs were examined clinically and electrophysiologically, and had genetic testing. RESULTS The dise...

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Hereditary distal spinal muscular atrophy with vocal cord paralysis.

A large kindred is described in which an unusual form of spinal muscular atrophy is segregating in an autosomal dominant manner. The disease presents most commonly in the teens with small muscle wasting in the hands, particularly involving median nerve musculature. Subsequently distal muscle wasting and weakness occur in the lower limbs. Vocal cord paralysis is a characteristic and potentially ...

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Juvenile muscular atrophy of the distal upper limb (Hirayama disease) associated with atopy.

Juvenile muscular atrophy of the distal upper limb (Hirayama disease) is a rare disease predominantly affecting the anterior horn cells of the cervical spinal cord in young men. Although the disease is considered to be a type of cervical myelopathy, the mechanism remains unknown. An immunological study of five consecutive patients with this disorder who were examined in the neurology clinic at ...

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Non familial juvenile distal spinal muscular atrophy of upper extremity.

An uncommon variety of non familial, juvenile onset, spinal muscular atrophy with asymmetric distal upper extremity affection is described. One hundred and two patients with a one to 14 year follow up are analysed. Spinal muscular atrophies with a distal distribution are rare. However, in the past three decades, previously unrecognised varieties of neurogenic muscular atrophy have been describe...

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Distal spinal muscular atrophy.

Spinal muscular atrophies (SMA) are clinically heterogenous group of motor system disorders characterised by progressive pure lower motor neuron involvement. The distal form of SMA is an extremely rare disorder, which presents in the adults and has a relatively slow progression with almost no effect on the patients' life-span. Differential diagnosis of this syndrome include other forms of neuro...

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ژورنال

عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry

سال: 1998

ISSN: 0022-3050

DOI: 10.1136/jnnp.64.2.217