Nemaline myopathy: other variants
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Nemaline myopathy: other variants. Decreased foetal movements, Polyhydramnios, Arthrogryposis, Hypotonia. Fully referenced neurology checklist.
Neonatal form: features
- Decreased foetal movements
- Polyhydramnios
- Arthrogryposis
- Hypotonia
- Severe muscle weakness
- Impaired suck and swallowing
- Gastro-oesophageal reflux
- Respiratory muscle weakness
- Dilated cardiomyopathy
Cap myopathy: mutations
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Core rod myopathy
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Rod myopathy
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Zebra body myopathy
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Other forms
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References
- North KN, Wang CH, Clarke N, et al; International Standard of Care Committee for Congenital Myopathies. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord 2014; 24:97-116.
- Sanoudou D, Beggs AH. Clinical and genetic heterogeneity in nemaline myopathy - a disease of skeletal muscle thin filaments. Trends Mol Med 2001; 7:362-368.
- Piteau SJ, Rossiter JP, Smith RG, MacKenzie JJ. Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. Pediatr Neurol 2014; 51:192-197.
- Lornage X, Malfatti E, Chéraud C, et al. Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. Ann Neurol 2017; 81:467-473.
- Malfatti E, Schaeffer U, Chapon F, et al. Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. Neuromuscul Disord 2013; 23:992-997.
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