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

Background: Recent advances in the field of molecular genetics have provided useful tools for the diagnosis of neuromuscular disorders. Genetic counselling for many of these conditions may, however, be fraught with difficulties.

Case Report: The patient, two paternal uncles and a paternal aunt presented with clinical and electromyographic evidence of type III spinal muscular atrophy despite an autosomal dominant-like pedigree.

Determination of body fluid compartments by impedance measurements: differences in the repartition of water between Duchenne muscular dystrophy and some neurological diseases.

Body fluid volumes were determined by impedance measurements in several groups of patients. Boys with Duchenne muscular dystrophy had decreased intracellular and extracellular fluid volumes. Patients with severe sequelae of poliomyelitis and with other severely disabling neurological diseases did not exhibit such profound alterations of their body fluid compartments.