Product registries are important for studying the real-world and long-term effectiveness of treatments, especially those for rare diseases. However, unlike randomized controlled trials, observational studies […]
Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease. SMA is generally categorized into five subtypes based on age of symptom onset and […]
Case Diagnosis- Surgical Hip Relocation with Femoral Derotational Osteotomy in Two Children With Spinal Muscle Atrophy Type 2 Treated with Nusinersen Case Description-We present two […]
Background: Amyotrophic lateral sclerosis (ALS) is a multisystemic neurodegenerative disease, clinically presenting with motor and non-motor symptoms. Patient symptomatology contributes to greater difficulties in performing […]
Objective: Evaluate the feasibility and reliability of remote assessments of adult individuals with CMT1A to enable remote monitoring of participants in clinical trials. Background: Recent […]
Traditional capacity measures have been used to capture ambulatory function in spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) in controlled settings. However, these […]
The congenital myopathies are a genetically heterogeneous group of skeletal muscle disorders characterized by early onset muscle weakness and variable myopathic findings on muscle biopsy […]