Management strategies in facioscapulohumeral muscular dystrophy

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) also known as Landouzy-Dejerine disease, is an autosomal-dominant disorder of the skeletal muscles with the name according to the various muscle groups it affects: the face, shoulders and upper arms. It is the third most common genetic degenerative disorder of the skeletal muscles without specific patterns in all the affected individuals. At present there is no cure for the disease but numerous management strategies are available to improve the quality of life and prevent further degeneration of various muscle groups. This review aims to provide an insight on the management strategies for FSHD patients including both lifestyle and medical intervention.

Keywords: Facioscapulohumeral muscular dystrophy; Landouzy-Dejerine disease; clinical manifestations; management; surgical intervention.

Figure 1.

Schematic representation of a pathologic Chromosome 4 in FSHD Type 1 compared to a normal allele.The normal allele normally has 11-100 repeats of D4Z4 (represented by ovals) which is contracted to less than 10 units in FSHD Type 1. In FSHD Type II there is no evidence of pathological change of D4Z4 but there is hypomethylation loss in chromosome 4 and 10.