TY - JOUR
T1 - The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
AU - Ringel, Steven P.
AU - Carroll, James E.
AU - Schold, S. Clifford
N1 - Copyright:
Copyright 2015 Elsevier B.V., All rights reserved.
PY - 1977/7
Y1 - 1977/7
N2 - We present 19 patients from 12 families with mild (Becker) X-linked recessive dystrophy and compare them with previously described cases. Features in common in the majority of patients include onset after the age of 7 years, walking beyond the age of 20 to 30 years, mild hypertrophy of the calves, mild joint contractures, and high arched feet. Psychometric tests, EEGs, and ECGs were usually normal. Muscle biopsy specimens showed a combination of features, some more characteristic of severe (Duchenne) X-linked dystrophy and others more commonly seen in limb girdle dystrophy. Although there was some variation in the severity between different families, within any one kindred, the clinical picture was quite similar.
AB - We present 19 patients from 12 families with mild (Becker) X-linked recessive dystrophy and compare them with previously described cases. Features in common in the majority of patients include onset after the age of 7 years, walking beyond the age of 20 to 30 years, mild hypertrophy of the calves, mild joint contractures, and high arched feet. Psychometric tests, EEGs, and ECGs were usually normal. Muscle biopsy specimens showed a combination of features, some more characteristic of severe (Duchenne) X-linked dystrophy and others more commonly seen in limb girdle dystrophy. Although there was some variation in the severity between different families, within any one kindred, the clinical picture was quite similar.
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U2 - 10.1001/archneur.1977.00500190042006
DO - 10.1001/archneur.1977.00500190042006
M3 - Article
C2 - 880066
AN - SCOPUS:0017756637
SN - 0003-9942
VL - 34
SP - 408
EP - 416
JO - Archives of Neurology
JF - Archives of Neurology
IS - 7
ER -