OBJECTIVES: To determine whether Nintendo Wii Fit™ is an acceptable adjunct to
physiotherapy treatment in the rehabilitation of balance, lower extremity movement, strength …

Spinal muscular atrophy (SMA) is an autosomal recessive degenerative neuromuscular
disorder characterized by loss of spinal motor neurons leading to muscle weakness and …

Pompe disease/glycogen storage disease type II, is a rare, lysosomal storage disorder
associated with progressive proximal myopathy, causing a gradual loss of muscular function …

Objective To validate a useful version of the Motor Function Measure (MFM) in children with
neuromuscular diseases aged< 7 years old. Design Two prospective cohort studies that …

Objective To assess the ability of the Motor Function Measure (MFM) to detect changes in
the progression of spinal muscular atrophy (SMA). Design Observational, retrospective …

Introduction Upper limb evaluation of patients with Duchenne Muscular Dystrophy is
crucially important to evaluations of efficacy of new treatments in non-ambulant patients. In …

Background: SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital
neuromuscular disease characterized by proximal and axial muscle weakness, spinal …

Objective Nemaline myopathy (NM) is a rare neuromuscular condition with clinical and
genetic heterogeneity. To establish disease natural history, we performed a cross-sectional …

The aim of this prospective longitudinal multi centric study was to evaluate the correlation
between the Hammersmith Functional Motor Scale and the 20 item version of the Motor …

The development of new therapeutic agents for the treatment of Duchenne muscular
dystrophy has put a focus on defining outcome measures most sensitive to capture treatment …