The French National Registry of patients with Facioscapulohumeral muscular dystrophy.

Background: Facioscapulohumeral muscular dystrophy is a rare inherited neuromuscular disease with an estimated prevalence of 1/20,000 and France therefore harbors about 3000 FSHD patients. With research progress and the development of targeted therapies, patients' identification through registries can facilitate and improve recruitment in clinical trials and studies.

Results: The French National Registry of FSHD patients was designed as a mixed model registry involving both patients and physicians, through self-report and clinical evaluation questionnaires respectively, to collect molecular and clinical data.

Short-TERM Neuromuscular Electrical Stimulation Training of the Tibialis Anterior Did Not Improve Strength and Motor Function in Facioscapulohumeral Muscular Dystrophy Patients.

Objective: The aim of this study was to investigate the effects on motor function, muscle strength, and endurance of short-term neuromuscular electrical stimulation training of the tibialis anterior muscles in patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1) in comparison with healthy controls.

Design: This prospective study included 10 patients with FSHD1 and 10 healthy participants. Maximal voluntary isometric contraction of ankle dorsiflexion and a 2-min sustained dorsiflexion maximal voluntary contraction with surface electromyography recordings of the tibialis anterior and the soleus muscles were measured and motor function clinical tests were performed before and after the training period.

The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.

Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array on chromosome 4 to a size of 1-10 units. The residual number of D4Z4 units inversely correlates with clinical severity, but significant clinical variability exists. Each unit contains a copy of the DUX4 retrogene.