Symptoms of mitochondrial disease

Update Date: 2023-03-13 Source: Network

summary

Mitochondrial disease usually occurs in infants, children or early adulthood, presenting a progressive or developmental course. The most common manifestations in infants and young children are stillbirth or stillbirth, progressive encephalopathy, myasthenia, a group of heterogeneous lesions caused by the deficiency of mitochondrial metabolic enzymes caused by genetic deformity, the obstruction of ATP composition, and the lack of energy. Symptoms of mitochondrial disease, I'll tell you about it.

Symptoms of mitochondrial disease

Both cell survival and cell death are related to mitochondrial function, especially the abnormal oxidative phosphorylation of respiratory chain is related to many human diseases. Growth retardation is common in adults, including binocular vision loss, stroke like seizures in young people, myoclonic epilepsy, myasthenia, blepharoptosis and visual twinning.

Mitochondrial myopathy usually starts at the age of 20. The clinical features of mitochondrial myopathy are that skeletal muscles are extremely intolerant of fatigue, and feel tired when they are slightly active. It is often accompanied by muscle soreness and tenderness, and muscle atrophy is rare. It is easy to be misdiagnosed as polymyositis, myasthenia gravis and progressive muscular dystrophy.

Chronic progressive external ophthalmoplegia (CPEO) usually starts in childhood. The first symptom is blepharoptosis, which slowly progresses to complete external ophthalmoplegia, ocular dyskinesia, bilateral external ophthalmoplegia symmetrical involvement, diplopia is not common; Some patients had weakness of pharyngeal muscles and limbs.

matters needing attention

Mitochondrial disease has a great influence on children's growth and development. Therefore, if the child is identified as suffering from mitochondrial disease, parents and friends must pay special attention to this disease. They must not avoid medical treatment and delay the disease. They need to choose regular medical institutions to treat the child.