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GTR Home > Conditions/Phenotypes > Nemaline myopathy 5C, autosomal dominant

Nemaline myopathy 5C, autosomal dominant

Summary

Autosomal dominant nemaline myopathy-5C (NEM5C) is a relatively mild skeletal muscle disorder with wide clinical variability, even within families. Affected individuals develop symptoms of muscle weakness in the first or second decades; those with earlier onset tend to have a more severe disease course. Features include difficulty walking on the heels, waddling gait, proximal muscle weakness affecting the upper and lower limbs, and Gowers sign. Additional features may include myopathic facies, high-arched palate, scoliosis or kyphosis, and ankle weakness. Patients remain ambulatory into late adulthood. Skeletal muscle biopsy shows hypotrophy of type 1 fibers, hypertrophy of type 2 fibers, fiber size variation, and myofibrillar disorganization. Nemaline rods in type 1 fibers are often observed, but are not always present (Konersman et al., 2017; Holling et al., 2022). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM2 (256030). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ANM, NEM5, STNT, TNT, TNTS, TNNT1
    Summary: troponin T1, slow skeletal type

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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