Rett syndrome is a rare genetic disorder that affects brain development and causes severe
mental and physical disability. This systematic review analyzes the most recent evidence …

Background: Pompe disease, also denoted as acid maltase or acid α-glucosidase deficiency
or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage …

Myasthenia gravis is a rare neuromuscular disorder characterized by muscle weakness and
fatigue. This review analyzes the most recent evidence regarding the effectiveness and …

Tendon disorders represent some of the most frequent musculoskeletal complaints
worldwide. In the athletic population, tendinopathy could affect different anatomical districts …

Objective: to find the most up-to-date evidence of the effectiveness and safety of supervised
physical therapy in polymyositis/dermatomyositis patients. Methods: a systematic review of …

Purpose To explore the lived experiences of mothers caring for school-age children with
Pompe disease. Design and methods A qualitative study using a descriptive …

Angelman syndrome is a rare genetic disease affecting the central nervous system and
neurobehavioral development causing severe mental, linguistic, and physical disabilities …

Featured Application Pompe disease is a neurological disease with significant impacts on
gait and balance. Therefore, it is important to measure these characteristics in a functional …

The physiological mechanisms behind muscle contraction are a main concept in sport
medicine and rehabilitation. The sarcomere is the functional unit of skeletal muscle and …

Introducción: La enfermedad de Pompe es una enfermedad genética multisistémica y
rápidamente progresiva, que causa compromiso muscular (esquelético, cardíaco y liso) …