Tibial muscular dystrophy with late adult onset in a Spanish family.

Purpose: We report autosomal dominant distal muscular dystrophy in 5 members of a Spanish family. Introduction: This unusual muscular disorder has late adult onset and predominantly it affects the anterior compartment ofthe legs. This myopathy presented clinical and electromyographical characteristics, but unspecific histological findings. Early there have appeared genetical studies, the most frequently used is chromosome linkage, but it is not an absolute criterion for diagnosis, and it is not available in most hospitals. Patients. Descriptions: In our cases walking difficulties appeared between the fourth and fifth decades, characterized by progressive and varied weakness with amyotrophy in the tibial anterior compartment. The electromyography confirmed the presence of a severe non-inflammatory myopathy, chronic and symmetric in the pretibial muscles and of less intensity in the calf muscles. The levels of creatine phosphokinase were normal and muscle biopsy identified a chronic, unspecific lesion with important fibrosis. Conclusions: The findings, although with some phenotypical differences, were those commonly found in Markesbery-Griggs disease, tibial muscular dystrophy or late onset type 2 distal myopathy. We report a family affected by this muscular disorder, we describe the differential diagnosis and we discuss the review of the available literature.