ABSTRACT
Although muscle disease classically presents with proximal extremity weakness, some
myopathic disorders, including several types of muscular dystrophy, result in predominantly,
or exclusively, distal muscle involvement. Accurate diagnosis of these relatively
uncommon conditions can be challenging for the clinician, because of both the unusual
phenotype and the significant overlap in the clinical features of many of these entities.
Advances in molecular genetics have permitted a tentative classification of these
disorders and have led to the identification of the responsible gene lesion for several
of these entities. This review summarizes current understanding of this interesting
group of muscular dystrophies and briefly summarizes other myopathies that can present
with distal weakness
Keywords
Muscular dystrophy - myopathy - distal
