Symptoms of MELAS syndrome?

summary

MELAS type mitochondrial encephalopathy, onset before 40 years old, more in childhood, clinical manifestations of sudden stroke, hemiplegia, hemianopia or cortical blindness, recurrent seizures, migraine and vomiting. CT and MRI showed occipital encephalomalacia, and the range of lesions was inconsistent with the distribution of main cerebral vessels; Brain atrophy, ventricular enlargement and basal ganglia calcification are also common. Blood and cerebrospinal fluid lactate increased. Symptoms of MELAS syndrome? Let's talk about it

Symptoms of MELAS syndrome?

Most of them began at the age of 20, but also in children and middle age. Both men and women were affected. The clinical feature is that skeletal muscle is extremely intolerable of fatigue, mild activity is fatigue, often accompanied by muscle pain and tenderness, muscle atrophy is rare. It is easy to be misdiagnosed as polymyositis, myasthenia gravis and progressive muscular dystrophy.

(1) Chronic progressive external ophthalmoplegia (CPEO): most of the patients developed in childhood. The first symptom was blepharoptosis, which slowly progressed to complete external ophthalmoplegia, ocular dyskinesia, symmetrical involvement of bilateral external ophthalmoplegia, and diplopia was uncommon; Some patients had weakness of pharyngeal muscles and limbs.

(2) Keams Sayre syndrome (KSS): onset before 20 years old, rapid progress, performance of CPEO and retinitis pigmentosa, often accompanied by heart block, cerebellar ataxia, increased CSF protein, nerve deafness and mental retardation.

matters needing attention

The treatment of genetic diseases is difficult and the curative effect is not satisfactory, so prevention is more important. Preventive measures include avoiding consanguineous marriage, carrying out genetic counseling, carrier gene testing, prenatal diagnosis and selective abortion to prevent the birth of children.