A 62-year-old, right-handed man with no family history presented with hemiatrophy (atrophy on one side of the body). He noticed right arm weakness in adolescence, and subsequently right foot drop. Neurologic examinations, including electromyography and imaging, showed right side predominant weakness/atrophy (figure). No asymmetry was apparent in systemic organs, including the brain. Southern bl...

The human double-homeodomain retrogene DUX4 is expressed in the testis and epigenetically repressed in somatic tissues. Facioscapulohumeral muscular dystrophy (FSHD) is caused by mutations that decrease the epigenetic repression of DUX4 in somatic tissues and result in mis-expression of this transcription factor in skeletal muscle. DUX4 binds sites in the human genome that contain a double-home...

OBJECTIVE To measure the presence of the alpha-sleep anomaly in facioscapulohumeral muscular dystrophy (FSHD) and to evaluate the association between the sleep electroencephalogram (EEG) pattern and the presence of musculoskeletal pain. DESIGN Cross-sectional study. SETTING Sleep laboratory. SUBJECTS Fifty-five consecutive adult FSHD patients, 26 women and 29 men, age 49.6 ± 15.1 years (r...

Editorial As a guest editor for this special issue of Neurology Diseases in the Chinese Medical Journal (English Edition), I am pleased to announce a completion of 19 articles (13 research articles, 4 review papers and 2 case reports) which cover a spectrum of research frontier in neurology diseases for publication in this issue. These articles provide an update on the state of clinical and bas...

BACKGROUND AND AIMS Muscle weakness is a potentially important, yet poorly studied, risk factor for falls. Detailed studies of patients with specific myopathies may shed new light on the relation between muscle weakness and falls. Here falls in patients with facioscapulohumeral disease (FSHD) who suffered from lower limb muscle weakness were examined. This study provides insights into the preva...

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common hereditary muscular disorders. Currently FSHD has no known effective treatment and detailed data on the natural history are lacking. Determination of the efficacy of a given therapeutic approach might be difficult in FSHD given the slow and highly variable disease progression. Magnetic resonance imaging (MRI) has been widel...

Facioscapulohumeral muscular dystrophy (FSHD) is an untreatable disease, characterized by asymmetric progressive weakness of skeletal muscle with fatty infiltration. Although the main genetic defect has been uncovered, the downstream mechanisms causing FSHD are not understood. The objective of this study was to determine natural disease state and progression in muscles of FSHD patients and to e...

Facioscapulohumeral Disease (FSHD) is a dominantly inherited progressive myopathy associated with aberrant production of the transcription factor, Double Homeobox Protein 4 (DUX4). The expression of DUX4 depends on an open chromatin conformation of the D4Z4 macrosatellite array and a specific haplotype on chromosome 4. Even when these requirements are met, DUX4 transcripts and protein are only ...