Muscular dystrophy with separate clinical phenotypes in a large family

This report describes a large consanguineous family with muscular dystrophy in 23 patients showing intrafamilial variation of clinical expression. One main variant appeared in the first decade with proximal muscle weakness progressing over the next 20 years to wheelchair confinement, and appeared compatible with classical limb-girdle muscular dystrophy. The other main variant showed onset of distal muscle weakness in lower limbs in the third or fourth decade, progressing very slowly without greater disability throughout the lifetime. Tibial muscle weakness and wasting were clinical landmarks in this variant, but computed tomography of skeletal muscle revealed focal areas of fatty degeneration also in truncal, pelvifemoral, and distal leg muscles in a way not previously reported in distal myopathy. The overall difference in clinical findings between these main variants would suggest 2 separate genetic entities, genealogical data makes a common genetic background possible.