A Cross-Sectional Study of Nemaline Myopathy.

ABSTRACT:

Objective

Nemaline myopathy (NM) is a rare neuromuscular condition with clinical and genetic heterogeneity. To establish disease natural history, we performed a cross-sectional study of NM, complemented by longitudinal assessment and exploration of pilot outcome measures.

Methods

Fifty-seven individuals with NM were recruited at 2 family workshops, including 16 examined at both time points. Participants were evaluated by clinical history and physical examination. Functional outcome measures included the Motor Function Measure (MFM), pulmonary function tests (PFTs), myometry, goniometry, and bulbar assessments.

Results

The most common clinical classification was typical congenital (54%), whereas 42% had more severe presentations. Fifty-eight percent of individuals need

SUBMITTER: Amburgey K 

PROVIDER: S-EPMC8055318 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature