Myotonic syndrome in children

Introduction to congenital myotonic syndrome in children Myotonic syndrome (myotonicsyndrome) is a relatively rare group of hereditary diseases, including congenital myotonia, atrophic rigidity, congenital accessory muscle rigidity and other diseases. The common features are: voluntary muscles after active contraction, or given to each After mechanical or electrical stimulation, the tonic contraction of the muscle does not immediately relax, and the muscle of the tonic contraction is stiff, but without pain. Cold, excitement, anxiety, fatigue, fever, etc. can make the muscles and aggravation worse, and use the percussion hammer to attack the muscles, and the muscle ball can appear. Electromyography can appear tonic potential. Congenital myotonia syndrome (congenital myotoniasyndrome) is also known as Thomsen disease, congenital myotonia (myotonia congenita), myotonic dystrophy syndrome, Thomsen syndrome. basic knowledge The proportion of illness: 0.005%-0.008% Susceptible people: children Mode of infection: non-infectious Complications: myotonic dystrophy

The cause of congenital myotonia syndrome in children

Causes:

The condition is autosomal dominant or recessive, and the cause is unknown.

Pathogenesis

The pathogenesis may be excessive production of acetylcholine at the neuromuscular junction. Pathologically, the muscles are pale and hypertrophied, and the muscle fibers and muscle mass in the muscle are increased. It is generally considered to be the lesion of the striated muscle itself without the abnormalities of the central and peripheral nervous systems.

Prevention of congenital myotonic syndrome in children

Prenatal diagnosis of pregnant women is performed on amniocentesis, chorion, and villus tissue biopsy to detect CTG repeats.

Complications of congenital myotonic syndrome in children Complications myotonic dystrophy

Generally no serious complications, muscle atrophy or myotonic dystrophy.

Pediatric congenital myotonia syndrome symptoms common symptoms limb stiffness eye muscle contracture muscle hypertrophy

The disease is mainly caused by males. It occurs soon after birth, or suddenly occurs during puberty. The clinical manifestations usually start in the neonatal period or in infancy, and there are significant symptoms of hypertrophy in puberty. Muscle rigidity can be widely seen in the body. The voluntary muscles at the site are obvious. The main manifestations are that the muscles are strong when starting activities, often limited to the limbs, and it is difficult to walk and then walk normally. After standing still or in a cold environment, such as involving the lower limb muscles, the child When standing up, stepping on the steps, the limbs are stiff, the movements are clumsy, and even unable to move. For example, if the hands and forearm muscles are involved, they should not relax immediately when holding the objects, such as involving facial muscles, crying or sneezing, and then close your eyes. Eyelids occur, it is not easy to open immediately; if you involve the masticatory muscles, you can't immediately relax when you start eating because of the masticatory muscle contraction. After several times of contraction, you can chew more normally, the muscles involved, except breathing, swallowing, and urinary muscles. Any striated muscle can be invaded. In severe cases, it can affect the masticatory muscles, throat muscles, and eye muscles. It can be changed due to mood, cold, and fatigue. Labor, fever and worse symptoms, warmth can alleviate symptoms, such as repeated do the same action, the tonicity of the affected muscles can be shortened or disappeared gradually, the body muscles of the children are mostly well developed, muscle strength, muscle tension and reflex are normal, no Muscle atrophy.

Examination of congenital myotonic syndrome in children

Blood, urine, routine examination is normal, serum creatine phosphokinase is normal.

1. Electromyography examination: Electromyography showed muscle tonic reaction, that is, the muscle continued to contract during electrification, and slowly relieved after power failure, and muscle tonic discharge occurred.

2. Electrocardiogram examination: It can be changed by hyperkalemia.

Diagnosis and diagnosis of congenital myotonic syndrome in children

Let the child close his eyes or hold the examiner's hand for 5 seconds and then relax immediately. The muscle rigidity will appear. After repeated activities, the muscle rigidity will gradually decrease. Using the percussion to hammer the muscles of the big fish can cause the thumb to palm. It can not be immediately slack, slamming the still muscles with percussion, local muscles appear concave due to contraction, and disappear for about half a minute. The deltoid muscle and the tongue muscle are most likely to have this reaction. Muscle biopsy and electromyography are also helpful for diagnosis.

The disease must be differentiated from myotonic atrophy, the latter has muscle atrophy at the same time, but there is often no muscle atrophy in the initial stage, but often with alopecia, testicular atrophy, cataract and other symptoms, and no tonic reaction to sniper and current stimulation. Can help identify.

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