Authors: E. Seemanová Authors‘ workplace: Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2. LF UK, FN v Motole, Praha, vedoucí MUDr. M. Havlovicová Published in: Čes-slov Pediat 2002; (7): 362-364. Category:
Facioscapulohumeral muscular dystrophy (FSHD) type Landouzy-Dejerine is manifested in the majority ofcases with slowly progressive muscular disorder. In our 7 patients with FSHD (6 males and 1 female) a specificmutation in region 4q35 was detected, all cases were due to a new dominant mutation. High-tone deafness andperipheral retinal capillary abnormalities with teleangiectasia and microaneurysms were found in the youngestpatient 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 diagnosticprocess as well as in medical care of patients with FSHD.
Key words: facioscapulohumeral muscular dystrophy Landouzy-Dejerine, hearing loss, retinal capillaryabnormalities, autosomal dominant inheritance with sex limitation, new mutations in region 4q35
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