A 5-year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials.

Introduction/aims: The number of clinical trials in facioscapulohumeral muscular dystrophy (FSHD) is expected to increase in the near future. There is a need for clinical outcome assessments (COAs) that can capture disease progression over the relatively short time span of a clinical trial. In this study, we report the natural progression of FSHD and determine the feasibility of COAs for clinical trials.

The other face of facioscapulohumeral muscular dystrophy: Exploring orofacial weakness using muscle ultrasound.

Introduction/aims: One of the most distinct clinical features of facioscapulohumeral muscular dystrophy (FSHD) is facial weakness. It leads to diminished facial expression and functional impairments. Despite its clinical relevance, little else is known about orofacial muscle involvement.

Comprehensive four-year disease progression assessment of myotonic dystrophy type 1.

Myotonic dystrophy type 1 (DM1) is a heterogeneous neuromuscular disorder characterized by progressive muscle weakness and myotonia. This study investigates the progression of muscular strength and function over a four-year period. Patients with DM1 were examined at baseline and four years later.

Improving Heckmatt muscle ultrasound grading scale through Rasch analysis.

The 4-point Heckmatt grading scale can easily be used to analyze muscle ultrasound images. The scale is used in an expanding set of muscles and neuromuscular disorders. This prompted the need for evaluation of the measurement properties of the scale in its current form.

The complementary use of muscle ultrasound and MRI in FSHD: Early versus later disease stage follow-up.

Objectives: Muscle MRI and ultrasound provide complementary techniques for characterizing muscle changes and tracking disease progression in facioscapulohumeral muscular dystrophy (FSHD). In this cohort study, we provide longitudinal data that compares both imaging modalities head-to-head.

Methods: FSHD patients were assessed at baseline and after five years.