Benign myasthenic congenital syndrome in children
Introduction
Brief introduction of benign congenital muscle relaxation syndrome in children Congenitalamyotoniasyndrome (congenitalamyotoniasyndrome) includes a group of congenital neuromuscular diseases of different causes. As early as 1900, Auburnham reported a congenital disease. Most of the muscles at birth were under tension and the tendon reflex disappeared. No current denaturing reaction, considered at that time to be an independent disease. Later, in the same family, there were two cases of congenital muscle relaxation and spinal progressive muscle atrophy. The pathology of the two diseases was identical, and the symptoms were slightly different. There was also an intermediate disease between the two diseases. Finally, it is recognized that the congenital muscle relaxation described by Auburnham is a light type of spinal progressive muscular atrophy. Benign congenital muscle relaxation syndrome is congenital myodystony, also known as Oppenheim syndrome, benign congenital myopathy syndrome. This disease is a more benign type of congenital muscle flaccid disorder, characterized by a decrease in most muscle tension and muscle weakness in the post-natal infancy. basic knowledge The proportion of illness: the incidence rate of infants and young children is about 0.002%-0.008% Susceptible people: children Mode of infection: non-infectious Complications: progressive spinal muscular atrophy
Cause
The cause of benign congenital muscle relax syndrome in children
Causes:
The etiology of this disease is unclear and may be related to heredity.
Pathogenesis
The fact that patients with congenital muscle flaccidity and spinal progressive muscle atrophy can be found in the same family supports the view of genetic causes, which are non-progressive myasthenias with unexplained babies. With the advancement of pathology, histochemistry and electron microscopy, there are many types of myopathy, including central axis disease, myotube myopathy, mitochondrial myopathy, and rod-shaped myopathy.
Prevention
Prevention of benign congenital muscle relaxation syndrome in children
If the cause is unknown, attention should be paid to preventive measures for hereditary diseases.
Complication
Complications of benign congenital muscle relax syndrome in children Complications progressive spinal muscular atrophy
Pediatric benign congenital muscle relaxation syndrome may trigger progressive spinal muscular atrophy.
Symptom
Symptoms of benign congenital muscle relax syndrome in children Common symptoms Powerless tendon reflexes disappear fetal growth retardation
There is no gender difference in this disease. Most of the muscles are weak and weak in the infancy. The proximal muscles are heavy and the lower limbs are heavier than the upper limbs. The inability to raise the head is the earliest expression of concern to parents and doctors. The walking path is far later than normal children. Some large sports develop slowly. Some muscle groups can still have strong movements. The reflexes are normal or underactive. Although they are delayed until 2 to 5 years old, they begin to stand, walk, and finally be able to move normally. Half of them are similar to normal children at 8 to 9 years old. Their intelligence is normal, muscle biopsy, electromyography and brain imaging are normal, and the prognosis is good. No special treatment is needed.
The intelligence of the children was mostly normal, the muscles were weak and mostly non-progressive, and there was no obvious muscle atrophy. There was no abnormality in the muscles. Most of them could gradually improve with the above-mentioned muscle relaxation.
Examine
Examination of benign congenital muscle relax syndrome in children
Serum zymography
Phosphocreatine kinase, aldolase, lactate dehydrogenase, aspartate aminotransferase were not abnormal.
2. Regular examination of blood, urine, routine examinations are more normal.
The electromyogram was normal or mild myopathy, and the brain imaging was normal.
Diagnosis
Diagnosis and differentiation of benign congenital muscle relax syndrome in children
According to the post-natal infancy, most of the muscle tension is weakened, muscle weakness, sensory presence, no obvious muscle atrophy, sputum reflexes disappear or decrease, the disease is not progressive, and more can be diagnosed with the gradual improvement of age.
During the diagnosis process, it must be differentiated from infantile progressive muscular atrophy. The latter has a late onset, and the disease is more than 6 months old. The condition is progressively aggravated and there is obvious muscle atrophy.
