Congenital nemaline myopathy: clinical features
Evidence-based neurology checklist on congenital nemaline myopathy: clinical features: Developmental features Neonatal hypotonia Feeding difficulties Delayed motor milestones Waddling gait Long and narrow expressionless facies Weakness: sites Other neurological features Dental features Skeletal…
Developmental features
- Neonatal hypotonia
- Feeding difficulties
- Delayed motor milestones
- Waddling gait
- Long and narrow expressionless facies
Weakness: sites
Other neurological features
Dental features
Skeletal features
Cardiac features
Differential diagnosis
References
- North KN, Laing NG, Wallgren-Pettersson C. Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. J Med Genet 1997; 34:705-713.
- 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.
- Olivé M, Goldfarb LG, Lee HS, et al. Nemaline myopathy type 6: clinical and myopathological features. Muscle Nerve 2010; 42:901-907.
- Christophers B, Lopez MA, Gupta VA, Vogel H, Baylies M. Pediatric nemaline myopathy: a systematic review using individual patient data. J Child Neurol 2022; 37:652-663.
- Moreno CAM, Artilheiro MC, Fonseca ATQSM, et al. Clinical manifestation of nebulin-associated nemaline myopathy. Neurol Genet 2023; 9:e200056.
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