Proximal Myopathy and Ophthalmoplegia
Caused by changes in MYH2, which encodes myosin heavy chain IIa, the motor protein of type 2A muscle fibres. Reported patients have included people with two changed copies of the gene.
Tünetek és jelek
Weakness of the muscles that move the eyes (ophthalmoplegia), sometimes with drooping eyelids, together with mild weakness of the shoulder and hip muscles, from childhood to middle adulthood. Symptoms are usually mild in childhood and can become progressive in adulthood. Joint contractures at birth have been described in early reports.
Mit változtat a diagnózis
Care includes physiotherapy, eye review for double vision or drooping eyelids, and monitoring of breathing and swallowing where weakness is more marked. Genetic counselling explains the inheritance pattern in each family and the risk to relatives.
Vizsgált gének
Más néven
inclusion body myopathy 3, autosomal dominant; myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles; MYPOP
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- childhood-onset autosomal recessive myopathy with external ophthalmoplegia
- hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
