Facioscapulohumeral dystrophy (FSHD) is the third most common type of muscular dystrophy after Duchenne and myotonic dystrophy with an incidence of 12 per 100,000 worldwide [1,2]. FSHD is an autosomal dominant disease with an insidious onset and development, characterized by progressive weakness and atrophy of facial, shoulder girdle and upper arm muscles [1]. Currently FSHD diagnosis is mainly...

Facioscapulohumeral muscular dystrophy is an autosomal-dominant, slowly progressive myopathy that involves facial, shoulder, and upper arm muscles. Facial muscle atrophy and weakness leads to drooping of the lower lip, which has unfavorable functional and aesthetic outcomes. While there are several methods to correct drooping of the lower lip, including lip resection, free vascularized muscle t...

In the adductor pollicis muscle of patients with limb-girdle and facioscapulohumeral muscular dystrophies and possible carriers of Duchenne type muscular dystrophy, abnormal active state properties were found at the time when there was no alteration of needle electromyography and evoked muscle action potentials. Adrenaline induced a marked reduction of incomplete tetanus via beta receptors with...

We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy. They showed the same broad range of clinical signs and symptoms as can be seen normally in FSHD. In 7 patients Southern blotting with p13E-11 was performed which showed an abnormal EcoRI fragment (13-22 kb) in 6 of them. We conclud...

An ENMC workshop on standards of care and management of facioscapulohumeral muscular dystrophy (FSHD) patients was held on January 15–17, 2010 in Naarden, The Netherlands. Twenty-four participants from eight countries participated. The primary objective was to develop standards of care in the diagnosis and management of patients with FSHD. Recommendations were formulated based on evidence, when...

Facioscapulohumeral muscular dystrophy (FSHD) is the one of most common types dystrophy. We present a retrospective case description patient with late-onset, atypical FSHD and provide an overview clinical history, physical exam findings, diagnosis treatment FSHD. A 71-year old male subjective facial weakness dysarthria presented initially without findings paresis normal diagnostic lab work. Ove...