Normal pregnancy and successful delivery in myophosphorylase deficiency (McArdle's disease).
نویسندگان
چکیده
The progress in pregnancy of a female with myophosphorylase deficiency (McArdle's disease) is described. In spite of the increased muscular effort expended, both pregnancy and labour were normal and the muscle symptoms unchanged, suggesting that compensatory mechanisms might have operated. These possible mechanisms are discussed. Women suffering from the myopathy need not expect any deterioration during pregnancy.
منابع مشابه
Lactate production in McArdle's disease.
A case of McArdle's disease in a man is described in detail and a less complete study of his family is reported. This patient showed the classical features of McArdle's disease and the diagnosis was confirmed by muscle biopsy. Unlike other reported cases of this disorder, this case showed a normal rise in blood lactate levels on ischaemic exercise. This apparently paradoxical finding is discuss...
متن کاملMyophosphorylase deficiency (McArdle's disease) in two interrelated families.
The clinical and laboratory findings are presented of three patients (two affected sisters and their male cousin) with myophosphorylase deficiency in two interrelated families. Nine unaffected relatives were also investigated. Although the three patients demonstrated the characteristic features of the disease, their unaffected relatives showed no clear evidence of a heterozygous state. The gene...
متن کاملMcArdle's disease with late-onset symptoms: case report and review of the literature.
McArdle's disease with late-onset symptoms is an unusual cause for muscle disease in older patients. The case of a patient with McArdle's disease whose symptoms began at 60 years of age is presented, and seven previous cases of late-onset McArdle's disease reported since 1963 are discussed. In five of the eight patients, the clinical presentation was similar to the early onset disorder with exe...
متن کاملExpression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency.
Patients with McArdle's myopathy lack muscle glycogen phosphorylase (M-GP) activity. Regenerating and cultured muscle of patients with McArdle's myopathy presents a glycogen phosphorylase (GP) activity, but it is not firmly established whether M-GP or non-M-GP isoforms are expressed. We have cultured myoblasts from biopsy specimen of five patients with McArdle's myopathy. Skeletal muscle was cu...
متن کاملMcArdle's disease: case report and review of the literature.
McArdle's disease, or myophosphorylase deficiency, is one of the most common muscle glycogenoses and typically presents in childhood or adolescence with exercise intolerance, myalgia, myoglobinuria, and cramps in the exercising muscle. We report the case of a 21-year-old male patient with liver enzyme elevation who had a history of weakness, exercise intolerance, and muscle cramps since childho...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 36 2 شماره
صفحات -
تاریخ انتشار 1973