SCN4A-Related Myopathy, Autosomal Recessive
Autozomálně recesivní
Caused by changes in both copies of SCN4A that reduce the function of the skeletal muscle sodium channel, so muscle fibres cannot fire properly. Different, single-copy SCN4A changes cause dominant conditions such as periodic paralysis and myotonia.
Příznaky a projevy
Low muscle tone, respiratory distress and delayed motor development from birth have been reported. Reduced fetal movement can occur before birth, and weakness can progress later in life.
Co se diagnózou změní
Respiratory and feeding support, physiotherapy and orthopaedic care, with neuromuscular follow-up. Genetic counselling explains the recessive inheritance, and carrier and prenatal testing are available for families.
Analyzované geny
Známé také jako
congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis; congenital myopathy with severe fetal hypokinesia; congenital myopathy with severe foetal hypokinesia; myopathy with ptosis and mild dystrophic pattern
Zahrnuje 1 příbuzný podtyp ↓Skrýt podtypy ↑
- congenital myasthenic syndrome 16
