Autoszomális recesszív
Caused by changes in both copies of CHRNG, the gamma subunit of the fetal acetylcholine receptor at the junction between nerve and muscle. Before birth this reduces fetal movement; after birth the adult form of the receptor takes over, so muscle weakness does not progress.
Tünetek és jelek
Joint contractures and skin webs across the neck, elbows, knees and other joints are present at birth, often with droopy eyelids; scoliosis may develop. In the most severe, lethal form, fetuses have widespread contractures, fluid accumulation (hydrops) and underdeveloped lungs. Less often there are breathing difficulties after birth.
Mit változtat a diagnózis
Physiotherapy, splinting and orthopaedic surgery help movement, with monitoring of the spine and breathing. Parents are usually carriers, so carrier testing for relatives, genetic counselling and options in future pregnancies are available.
Vizsgált gének
