The positive outcome of different therapeutic approaches for spinal muscular atrophy (SMA)
in clinical trials and in clinical practice have highlighted the need to establish if functional …

Objective This systematic review aims to provide an overview of instruments used to assess
behavioral and psychosocial functioning of patients with Duchenne and Becker muscular …

Objective Limb girdle muscular dystrophy type R9 (LGMD R9) is an autosomal recessive
muscle disease for which there is currently no causative treatment. The development of …

Becker muscular dystrophy (BMD) is one of the most frequent among neuromuscular
diseases, affecting approximately 1 in 18,000 male births. It is linked to a genetic mutation …

Hereditary motor and sensory neuropathy (HMSN) and myotonic dystrophy (MD) are chronic
neuromuscular diseases that cause progressive muscular impairment and impact patient's …

Background Although functional impairment in patients with myotonic dystrophy is an
important determinant of the quality of life (QoL), patients' subjective evaluation of their …

This cross-sectional study evaluated health-related quality of life (HRQoL) in patients with
slowly progressive neuromuscular disorders dependent on mechanical ventilation (MV;≥ …

In myotonic mystrophy type 1 (DM1), combining respiratory symptom screening and
respiratory function testing, is crucial to identify the appropriate time for ventilatory support …

The present study is the first research that analyzes the quality of life (QoL) of people
affected by a dominant form of limb–girdle muscular dystrophy, specifically limb–girdle …

Abstract The Quality of Life (QOL) is influenced by several disease-related factors, support,
resources, expectations, and aspirations, within the disease-related concepts. The …