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KMID : 0377619730240050553
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Korean Jungang Medical Journal
1973 Volume.24 No. 5 p.553 ~ p.560
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Hereditary Spinal Muscular Atrophy with Juvenile Onset
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Abstract
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Hereditary spinal muscular atrophy is characterized by a familial incidence, chronic degeneration of the lower motor neurons and neurogenic atrophy of the skeletal muscles.
Spinal muscular atrophy is classified as Werdnig-Hoffman´s disease, arthrogryposis multiplex due to anterior horn cell disease, pseudomyopathic spinal muscular atrophy (Kugelberg-Welander disease), and scapuloperoneal spinal muscular atrophy (Stark-Kaeser´s disease).
The purpose of this article is to report a family of which five members in two generations were affected by Kugelberg-Welander disease. The father and his five sons were involved. One of the five died due to unknown cause, last year. The mother and one daughter were intact. The youngest male child has not yet complained of muscle weakness. However, on electromyographic examination of this patient, there were many giant motor unit potentials found diffusely in muscles of all extremities. In view of this neuropathic electrornyographic findings, it is assumed that this child is also involved but sub clinical at present.
Onset was juvenile, between ages from five to seven year old. Weakness and muscle atrophy developed since early childhood in all these affected cases. Muscle weakness in all patients was symmetrical and slowly progressive, worse in proximal muscles of upper and lower extremities. Physical and laboratory findings were similar in these patients.
Muscle biopsy showed neurogenic myopathy findings.
Motor conduction and sensory nerve action potential studies were normal electromyography, many giant motor unit potentials
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KEYWORD
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