Key result
Pedigree analysis suggests that the mild, late-onset distal myopathy is caused by a dominant gene and that the severe limb-girdle type may be expressed in homozygotes.
Observational (n=46)
Pedigree analysis suggests that mild, late-onset distal myopathy may be caused by a dominant gene, while the severe limb-girdle type may be its homozygous manifestation.
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Alerts clinicians to possible inheritance patterns in myopathy families; leaves open molecular confirmation in larger cohorts.
A family study was carried out to clarify the problem of two separate muscle disease phenotypes in a large consanguineous pedigree. These were a severe limb-girdle type muscular dystrophy and a mild late onset distal myopathy. Thirty-two first degree and 14 other relatives of 18 previously examined index patients were available for clinical examination. Twenty-three subjects underwent computed tomography of the lower leg muscles. No new cases of limb-girdle type muscular dystrophy were found. Distal myopathy was diagnosed in 14 subjects, 10 first degree relatives and four other relatives. Segregation analysis showed that the corrected proportion of affected with the severe proximal type was 0.246 and the proportion of affected with the distal myopathy was 0.58. Pedigree analysis is compatible with the possibility that the mild, late onset distal myopathy is caused by a dominant gene and that the limb-girdle type may be expressed in homozygotes.
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B. Udd (1992) conducted an observational in Limb-girdle type muscular dystrophy and distal myopathy (n=46). Genetic inheritance was evaluated on Proportion of affected individuals with severe proximal type and distal myopathy. Pedigree analysis suggests that the mild, late-onset distal myopathy is caused by a dominant gene and that the severe limb-girdle type may be expressed in homozygotes.
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