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GTR Home > Conditions/Phenotypes > Nemaline myopathy 5B, autosomal recessive, childhood-onset

Nemaline myopathy 5B, autosomal recessive, childhood-onset

Summary

Autosomal recessive childhood-onset nemaline myopathy-5B (NEM5B) is a skeletal muscle disorder in which patients usually present with proximal muscle weakness of the lower and upper limbs in a limb-girdle distribution, resulting in gait abnormalities; however, most remain ambulatory even into late adulthood. Some affected individuals show delayed motor development. There is axial weakness and atrophy of the paraspinal muscles, along with kyphosis, scoliosis, and rigid spine, as well as variable limitations of the large joints. Most patients develop restrictive respiratory insufficiency with decreased forced vital capacity; some need noninvasive ventilation. Serum creatine kinase may be elevated. Muscle biopsy can show variable features, including nemaline rods, multiminicore lesions, endomysial fibrosis, and myofibrillar changes (Pellerin et al., 2020; Lee 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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