Summary:
Facioscapulohumeral muscular dystrophy (FSHD) type Landouzy-Dejerine is manifested in the majority of
cases with slowly progressive muscular disorder. In our 7 patients with FSHD (6 males and 1 female) a specific
mutation in region 4q35 was detected, all cases were due to a new dominant mutation. High-tone deafness and
peripheral retinal capillary abnormalities with teleangiectasia and microaneurysms were found in the youngest
patient before muscular manifestations. Themutation in the same gene in all our patients represents pleiotropism.
This report will emphasize the necessity to respect the complexity of whole spectrum of features in the diagnostic
process as well as in medical care of patients with FSHD.
Key words:
facioscapulohumeral muscular dystrophy Landouzy-Dejerine, hearing loss, retinal capillary
abnormalities, autosomal dominant inheritance with sex limitation, new mutations in region 4q35
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