Distal myopathies

A new disease profile is added to our database – Distal myopathies. The distal myopathies are a clinically and pathologically heterogeneous group of genetic disorders in which the distal muscles of the upper or lower limbs are selectively or disproportionately affected. The distal myopathies are rare, but characteristic clinical and histological features aid in their identification. Comparison of the different forms of distal myopathy has shown considerable phenotypic variability, both in terms of the age at which symptoms first develop and the pattern of differential involvement of the limb muscles and of other muscle groups such as those of the neck and face. The distal myopathies may be classified in several ways according to the mode of inheritance, clinical syndrome, age at onset (early and late onset forms) affected muscle groups and gene locus. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in neurology – Dr. Pavel Balabanov, MD