Background: Filamin C (FLNC) myopathies present with a diverse range of phenotypes with the proximal form presenting with proximal weakness and pathology consistent with myofibrillar […]
Giant Axonal Neuropathy (GAN) is an ultra-rare neuromuscular disorder with early-childhood onset caused by autosomal recessive mutations in the GAN gene. GAN is characterized by […]
OBJECTIVE: To explore the demographic data, clinical characteristics, and predictors of survival in patients with Amyotrophic lateral sclerosis (ALS) registered in the ALS Association Mid-America […]
Background: Duchenne muscular dystrophy (DMD) is a severe and progressive neuromuscular disease. When comparing outcomes between two populations in non-randomised studies, propensity score matching (PSM) […]
Collagen XII-related disorders (COLXII-RD) are a heterogenous group of disorders with overlapping symptoms involving both connective tissue and muscle, clinically manifesting with hyperlaxity, contractures, and […]
Characterization of disease progression in DMD patients around loss of ambulation (LoA) is needed to inform selection criteria and choice of endpoints in clinical trials […]
BACKGROUND: DMD is a rare neurodegenerative disease dramatically affecting HRQoL. Utility scores (dead=0 and full health=1) reflect preferences for the HRQoL implications of specific health […]
Objective: Assess the effectiveness of in-home mobility and sleep monitoring in capturing FSHD disease severity using Emerald, a contactless home sensor and machine learning platform. […]
Facioscapulohumeral muscular dystrophy 1 (FSHD1) is a prevalent inherited skeletal myopathy linked to truncation of the D4Z4 macrosatellite at chromosome 4q35. Though classically presenting first […]