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Clinical variability of congenital myopathy with type 1 fiber atrophy: a long-term observation of three cases

Authors :
K, Shishikura
M, Osawa
H, Suzuki
Y, Hirayama
Y, Arai
S, Sumida
R, Takahashi
Y, Fukuyama
Source :
Acta paediatrica Japonica : Overseas edition. 36(2)
Publication Year :
1994

Abstract

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.

Details

ISSN :
03745600
Volume :
36
Issue :
2
Database :
OpenAIRE
Journal :
Acta paediatrica Japonica : Overseas edition
Accession number :
edsair.pmid..........494cd66ce6bedb3dcf67cfea4095650b