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.
Signs and symptoms
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.
What a diagnosis changes
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.
Genes analysed
Also known as
inclusion body myopathy 3, autosomal dominant; myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles; MYPOP
Includes 2 related subtypes ↓Hide subtypes ↑
- childhood-onset autosomal recessive myopathy with external ophthalmoplegia
- hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
