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Clinical variability of congenital myopathy with type I fiber atrophy: A long‐term observation of three cases
Author(s) -
SHISHIKURA KEIKO,
OSAWA MAKIKO,
SUZUKI HARUKO,
HIRAYAMA YOSHITO,
ARAI YUMI,
SUMIDA SAWAKO,
TAKAHASHI RIEKO,
FUKUYAMA YUKIO
Publication year - 1994
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1994.tb03159.x
Subject(s) - medicine , myopathy , congenital myopathy , atrophy , term (time) , pediatrics , biopsy , muscle biopsy , physics , quantum mechanics
The variable clinical courses of three cases of congenital fiber type disproportion (CFTD) over a period of 10 years are presented. All showed improvement in early childhood, but subsequently, varying degrees of deterioration were noted: specifically, marked deterioration in case 2 and decreased muscle strength in case 3. Maximal motor function levels were attained differently among the cases. Histological findings included type 1 fiber hypotrophy and increased internal nuclei in common in all cases. Fine structural changes, such as patchy areas of myofibrillar degeneration, were noted in cases 1 and 2 (second biopsy), and cytoplasmic bodies were seen in case 2 (second biopsy). Myotubes were noted in case 3. The degree of cyto‐architectural changes did not correlate with clinical severity. The heterogeneity of CFTD is also discussed.