Autozomálně recesivní
Caused by changes in both copies of TOR1AIP1, which makes lamina-associated polypeptide 1 (LAP1), a protein of the nuclear envelope that interacts with lamins and torsinA.
Příznaky a projevy
Slowly progressive weakness of the limb-girdle muscles, often beginning in childhood or adolescence, with joint contractures and stiffness of the spine. Heart involvement, including cardiomyopathy, and breathing muscle involvement can develop. Less often, loss of both LAP1B and LAP1C causes a syndromic disorder affecting muscle, brain, eyes, ears, skin and bones.
Co se diagnózou změní
Regular heart and breathing assessment, as cardiac and respiratory complications can develop; physiotherapy and orthopaedic care for contractures. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.
Analyzované geny
Známé také jako
autosomal recessive limb-girdle muscular dystrophy type 2Y; muscular dystrophy autosomal recessive with rigid spine and distal joint contractures; TOR1AIP1-related limb-girdle muscular dystrophy
Zahrnuje 1 příbuzný podtyp ↓Skrýt podtypy ↑
- autosomal recessive limb-girdle muscular dystrophy type 2Y
