Medknow Publications on behalf of the Neurological Society of India
Abstract
Distal myopathies are a group of heterogeneous disorders classified
into one broad category due to the presentation of weakness involving
the distal skeletal muscles. The recent years have witnessed increasing
efforts to identify the causative genes for distal myopathies. The
identification of few causative genes made the broad classification of
these diseases under "distal myopathies" disputable and added some
enigma to why distal muscles are preferentially affected. Nevertheless,
with the clarification of the molecular basis of specific conditions,
additional clues have been uncovered to understand the mechanism of
each condition. This review will give a synopsis of the common distal
myopathies, presenting salient facts regarding the clinical,
pathological, and molecular aspects of each disease. Distal myopathy
with rimmed vacuoles, or Nonaka myopathy, will be discussed in more
detail