A Family Study of Phosphorylase Deficiency in Muscle

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Abstract
A study was conducted of 3 siblings (ages 18, 15 and 6 years) with myopathy of the type described by MaArdle. Symptoms of weakness, muscular pain and tightness developed upon exertion in these patients and disappeared with rest One patient was demonstrated to have myoglobinuria after severe exercise. Muscle obtained by biopsy from this patient showed absence of phosphorylase activity. Two of the siblings were girls and are believed to be the only females studied with this disease as well as the youngest patients reported. Three additional siblings and both parents were found to have normal responses to ischemic excercise test and were asymptomatic. Four generations of this family comprising 36 known members have no history of similar disorder. A summary of previous reports describing clinical and biochemical aspects of the disease is given alone with a discussion of certain physiological correlates which were clearly evident in these patients.

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