INTRODUCTION Earlier small case series and clinical observations reported on chronic pain playing an important role in facioscapulohumeral dystrophy (FSHD). The aim of this study was to determine the characteristics and impact of pain on quality of life (QoL) in patients with FSHD. METHODS We analyzed patient reported outcome measures collected through the U.K. FSHD Patient Registry. RESULT...

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder linked to contractions of the D4Z4 repeat array in the subtelomeric region of chromosome 4q. By comparing genome-wide gene expression data from muscle biopsies of patients with FSHD to those of 11 other neuromuscular disorders, paired-like homeodomain transcription factor 1 (PITX1) was found specifically up-regulate...

Facioscapulohumeral muscular dystrophy (FSHD), a common hereditary myopathy, is characterized by atrophy and weakness of selective muscle groups. FSHD is considered an autosomal dominant disease with incomplete penetrance and unpredictable variability of clinical expression within families. Mice overexpressing FRG1 (FSHD region gene 1), a candidate gene for this disease, develop a progressive m...

StreSzczenie Dystrofia twarzowo-łopatkowo-ramieniowa (FSHD) to trzecia co do częstości występowania dystrofia mięśniowa, dziedziczona autosomalnie dominująco. Pierwsze objawy zazwyczaj manifestują się w drugiej dekadzie życia, a bardzo wczesny początek (u dzieci przed 10. rokiem życia) wiąże się z ciężkim przebiegiem choroby, szybszym postępem niesprawności oraz większym ryzykiem powikłań. Prac...

F acioscapulohumeral muscular dystrophy (FSHD) is the third most common form of muscular disorder with an autosomal dominant trait, and its frequency is about one in 20 000. It is characterised by weakness and atrophy of the facial, shoulder girdle, and upper limb muscles. The pelvic girdle and lower limbs subsequently also become involved, and, eventually, 20% of patients have to use wheelchai...

T he highly conserved facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) was initially cloned as candidate gene of unknown function for FSHD. To explore the biological function of the FRG1 protein (FRG1P), we studied its cellular localisation in untransfected and FRG1 transfected cell lines. In interphase cells, FRG1P is localised in the dense structures of the nucleolus, in Caj...

F acioscapulohumeral muscular dystrophy (FSHD) is the third most common form of muscular disorder with an autosomal dominant trait, and its frequency is about one in 20 000. It is characterised by weakness and atrophy of the facial, shoulder girdle, and upper limb muscles. The pelvic girdle and lower limbs subsequently also become involved, and, eventually, 20% of patients have to use wheelchai...

A 60-year-old man diagnosed clinically with Becker's muscular dystrophy 20 years ago by another physician presented with gradually progressive proximal muscle weakness since teenage years. Family history revealed a strong paternal familial inheritance pattern of similar distribution of weakness-face, forearm flexion, knee extension and foot dorsiflexion. Work-ups revealed B12 deficiency and all...

We report a case of birdshot chorioretinopathy (BSCR) in a patient with facioscapulohumeral muscular dystrophy (FSHD). A 40-year-old male with history of facioscapulohumeral muscular dystrophy with significant facial diplegia and lagophthalmos presents for an evaluation of bilateral choroiditis with vasculitis and optic disc edema. Clinical examination included fundus and autofluorescence photo...