Clinical, genetic, and pathologic characterization of Mexican founder mutation c.1387A>G.

Objective: To characterize the clinical phenotype, genetic origin, and muscle pathology of patients with the c.1387A>G mutation.

Methods: Standardized clinical data were collected for all patients known to the authors with c.

Feasibility and Reproducibility of Echocardiographic Measures in Children with Muscular Dystrophies.

Background: Cardiac disease is a major cause of death in patients with muscular dystrophies. The use of feasible and reproducible echocardiographic measures of cardiac function is critical to advance the field of therapeutics for dystrophic cardiomyopathy.

Methods: Participants aged 8 to 18 years with genetically confirmed Duchenne muscular dystrophy (DMD), Becker muscular dystrophy, or limb-girdle muscular dystrophy were enrolled at five centers, and standardized echocardiographic examinations were performed.

An unusual case of recurrent guillain-barre syndrome of a different subtype five years after initial diagnosis.

We present a case of a previously healthy 17-year-old girl with history of Guillain-Barre Syndrome 5 years after initial presentation who presented with bilateral lower extremity pain, worsening dysphagia, subsequent weakness, and decreased reflexes. Cerebrospinal fluid analysis had a prominent lymphocytic pleocytosis. MRI of spine showed significant anterior nerve root enhancement.

Pentoxifylline as a rescue treatment for DMD: a randomized double-blind clinical trial.

Objective: To determine whether pentoxifylline (PTX) slows the decline of muscle strength and function in ambulatory boys with Duchenne muscular dystrophy (DMD).

Methods: This was a multicenter, randomized, double-blinded, controlled trial comparing 12 months of daily treatment with PTX or placebo in corticosteroid-treated boys with DMD using a slow-release PTX formulation (~20 mg/kg/day). The primary outcome was the change in mean total quantitative muscle testing (QMT) score.

Consensus treatment recommendations for late-onset Pompe disease.

Introduction: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders.

Methods: Objective is to propose consensus-based treatment and management recommendations for late-onset Pompe disease.