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PubMed2000

Juvenile muscular atrophy of distal upper extremity (Hirayama disease).

This disease is characterized by initially progressive muscular weakness and wasting of the distal upper limb(s) in young people predominantly in men, followed by a spontaneous arrest within several years. This disease has been thought to be separate from motor neuron diseases, yet some authors still consider the illness a variant of motor neuron disease. However, the pathological evidence of ischemic changes in the lower cervical anterior horn should facilitate differentiation of the disorder from degenerative motor neuron disease. Recent radiological investigations proved compressive flattening of the lower cervical cord due to forward displacement of the cervical dural sac and spinal cord induced by neck flexion. These findings suggest that sustained or repeated neck flexion may cause ischemic changes in the cervical anterior horn. Application of a cervical collar to minimize neck flexion prevents progressive muscular weakness in an early stage of the disease.

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PubMed1990

Spinal muscular atrophy in African children.

Forty-five African children with SMA were seen over a period of five years. Fifteen had severe infantile form (Group 1), 19 intermediate (Group 2), 9 juvenile (Group 3) and 2 cervical type. A positive family history was obtained in only 9% of patients. The female/male ratio was 1:1.7. The age of onset was under four months in Group 1, between 5-24 months in Group 2. In 77% of Group 3 onset was between 5-24 months, 22% between 25-48 months. The lower limbs were more severely affected than upper limbs in all except the two patients with cervical SMA, proximal muscles more than distal in 82% and proximal and distal muscle were equally affected in 18%. Bulbar weakness was present in 73% and facial weakness in 80% of Group 1 patients only. Fasciculation of tongue occurred in 50% of Group 1, 42% of Group 2 and 44% of Group 3 patients. Tremor of hands was seen in none of the patients in Group 1, 58% in Group 2 and 66% in Group 3. Tendon reflexes were absent or depressed in all except one patient in Group 2 and were normal in the legs of the two patients with cervical SMA. The blood CK was elevated in 26% of patients. An ECG "tremor" was present in 26% of patients in Group 1, 68% in Group 2 and 66% in Group 3. Four patients (all in Group 1) died of pneumonia; the outcome in the others is not known.(ABSTRACT TRUNCATED AT 250 WORDS)

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