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HEREDITARY MOTOR SYSTEM DISEASES (CHRONIC JUVENILE AMYOTROPHIC LATERAL SCLEROSIS)
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1990
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The disease presents with bilateral pyramidal syndrome, hand and/or leg weakness with atrophy and fasciculation, possible bulbar or pseudobulbar involvement, and no sensory disturbance. The study aims to discuss and compare these clinical entities with previously reported cases. Forty‑three patients from 17 families were examined and classified into three groups—upper‑limb amyotrophy with pyramidal signs, spastic paraplegia with peroneal atrophy, and spastic pseudobulbar syndrome—based on their clinical presentation. EMG showed denervation in 31 cases, nerve conduction was normal, biopsies revealed neurogenic atrophy of the peroneus brevis with minor peripheral nerve changes, and the disorder had a mean onset age of 12 years, slow progression, and autosomal recessive inheritance.
Forty-three patients with hereditary motor system diseases belonging to 17 familes were studied. The clinical features consisted of a bilateral pyramidal syndrome, weakness with atrophy and fasciculation of the hands and/or the legs, with or without a bulbar or a pseudobulbar syndrome and without sensory disturbance. Electromyography in 31 cases (including all index cases) showed evidence of denervation.Motor and sensory nerve conduction velocity was normal; sensory nerve action potential amplitudes, examined in 11 cases, were also normal. Nerve and muscle biopsies taken in 29 cases (including all index cases)showed neurogenic atrophy in the peroneus brevis muscle and minor changes only in the superficial peroneal nerve. The mean age of onset was 12.06(range 3–25years), and progression was very slow.Inheritance appeared to be autosomal recessive. Depending on the clinical presentation, the patients were subdivided into three groups comprising(1) upper limb and sometimes bulbar amyotrophy with a bilateral pyramidal syndrome(17 patients: 11 familial and 6 isolated);(2) spastic paraplegia with peroneal muscular atrophy (14 patients: 11 familial and 3 isolated): and (3) a spastic pseudobulbar from (12 patients in a large kinship). These entities are discussed and compared with other cases reported in the literature.