BACKGROUND: Recent advances in the field of molecular genetics have provided useful tools for the diagnosis of @entity4094 . Genetic counselling for many of these conditions may, however, be fraught with difficulties. CASE REPORT: The @entity1 , two paternal uncles and a paternal aunt presented with clinical and electromyographic evidence of @entity4574 despite an @entity74 . The diagnosis was confirmed by genetic testing for the SMN deletion. As the proband's mother was pregnant at the time of presentation of the affected @entity1 , a prenatal diagnostic test was performed. The deletion was not found in the DNA extracted from the trophoblast and the pregnancy proceeded to full term, and a normal @entity1 . At the same time, a first cousin of the proband was found to have a clinically similar condition. He had not the SMN deletion. He presented with electrophysiological and pathological features of @entity17325 . Genetic testing revealed a homozygote del T521 mutation of the gama-sarcoglycan gene. CONCLUSION: To provide accurate genetic counselling, it is essential to get precise data on family background and diagnostic confirmation for each affected relative to avoid missing the possibility, albeit rare, of several @entity4094 within a family.

[Diagnostic trap and difficulties of genetic counseling in a family with XXXX carriers].

@entity1 :: ('9606', 'Species') :: ['patient', 'child'] @entity4094 :: ('MESH:D009468', 'Disease') :: ['neuromuscular disorders'] @entity4574 :: ('MESH:D014897', 'Disease') :: ['type III spinal muscular atrophy'] @entity74 :: ('MESH:D030342', 'Disease') :: ['autosomal dominant-like pedigree'] @entity17325 :: ('MESH:D049288', 'Disease') :: ['limb-girdle muscular dystrophy']
@entity4094 :: (MESH:D009468,Disease) :: ['neuromuscular disease']
