Early onset facioscapulohumeral muscular dystrophy – long-term follow-up of a patient with total facial diplegia

Facioscapulohumeral muscular dystrophy (FSHD) type 1 is a common muscular dystrophy with an estimated prevalence of 1 in 15,000 caused by a heterozygous contraction of D4Z4 repeats on a chromosome with a 4qA haplotype [1]. The classical phenotype includes facial weakness followed sequentially by scapular fixator, humeral, truncal, and lower-extremity weakness. However, the clinical picture is diverse and often atypical including scapular or scapuloperoneal muscular dystrophy, infantile facial diplegia, limb girdle muscular dystrophy, distal or monomelic myopathy and bent spine syndrome.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: Sabine Rudnik-Sch öneborn, Martina Huemer, Joachim Weis, Elizabeta Sauer, Gerhard Meng Tags: Case report Source Type: research