Myopathy due to juvenile acid maltase deficiency affecting exclusively the type I fibres.
نویسندگان
چکیده
The clinical and laboratory findings of a patient with juvenile acid maltase deficiency are presented. The patient died from respiratory muscle weakness at age 31 years. Muscle biopsy shortly prior to his death showed remarkable vacuolation affecting exclusively type I fibres and mild myopathic changes of both types of muscle fibres, while the muscle biopsy at age 26 years had shown no evidence of acid maltase deficiency.
منابع مشابه
Respiratory failure as initial symptom of acid maltase deficiency.
Nine patients with adult onset acid maltase deficiency were seen at the Nijmegen University Hospital and the St Elisabeth Hospital, Tilburg , during the period 1970-1982. Five of these patients developed respiratory failure, and in four this was the initial symptom. The occurrence of respiratory failure as an early symptom of this muscular disease is discussed.
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ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 47 2 شماره
صفحات -
تاریخ انتشار 1984