What Is Congenital Muscular Dystrophy?

Congenital muscular dystrophy (CMD) is an autosomal recessive inheritance. It includes a group of muscle weakness and low muscle tone at birth or within months of birth. It can be associated with a large degree of central nervous system involvement. Group of diseases.

Congenital muscular dystrophy

Congenital muscular dystrophy (CMD) is an autosomal recessive inheritance. It includes a group of muscle weakness and low muscle tone at birth or within months of birth. It can be associated with a large degree of central nervous system involvement. Group of diseases.

Chinese name

Congenital muscular dystrophy

Foreign name

congenital muscular dystrophy

Category

Genetic disease

Symptom

Congenital muscular dystrophy is a condition that occurs during or within months of birth

Congenital muscular dystrophy begins in the newborn, manifests as a spinal process, decreased muscle tone, and is often accompanied by

1. The main characteristics of the Fukuyama type are progressive muscular dystrophy with a wide range of congenital malformations of the nervous system, including increased and widened gyrus of the brain and cerebellum, shallower sulci, and extensive malnutrition of white matter. It is sometimes accompanied by hydrocephalus and retinal degeneration. The pathological changes of muscle were muscle fiber necrosis, regeneration and interstitial hyperplasia, and muscle fiber staining was positive for merosin staining. This type is autosomal recessive, the gene is located at 9q31-33, and the coding protein is Fukutin. It is more common in Japan, and it usually occurs within 6 months after birth. The clinical manifestations are low muscle tone and muscle tension, delayed head-up and sitting, delayed facial muscle involvement, and respiratory muscle involvement. Only a few children can walk independently. Hypertrophy and joint contracture, mental retardation. Blood CK often increases 10 to 60 times. Most died within 2 to 23 years of age.

2. Non-Fukuyama type refers to congenital muscular dystrophy other than the Fukuyama type. It mainly includes merosin deficiency, Walker-Warberg syndrome, muscle-eye-brain disease (MEBD), congenital muscular dystrophy with spinal rigidity and Ullrich disease.

(1) Merosin deficiency merosin is an isoform of basement membrane laminin (Laminin ) located in the extracellular matrix, which is closely related to the dystrophylycan- of the muscular membrane The latter combines with the dystrophin glycoprotein and the cytoskeleton protein dystrophin in the sarcoplasm to form a tightly connected complex (see Figure 34-3-1). Merosin deficiency can destroy the connection between the cytoskeleton and the extracellular matrix, leading to muscle fibrosis and necrosis. This type of congenital muscular dystrophy is common in Europe and the United States. It is an autosomal recessive inheritance and the gene is located at 6q22-23. Muscle pathological changes were the same as Fukuyama type, but merosin immunohistochemical staining was negative. Most of the patients developed symptoms at birth or within 6 months after birth, showing muscle strength, low muscle tone, joint contracture, facial and respiratory muscle involvement, and no eye symptoms. No or only slight mental retardation. A wide range of low-density white matter can be seen on the CT of the brain. Brain MRI shows abnormal signals in the white matter and changes in the cerebral cortex are very light. This is different from the Fukuyama type.

(2) Muscle-eye-encephalopathy was first reported by Finnish scholar Santavouri, so it is also called Santavouri disease. The main features are congenital muscular dystrophy with retinal degeneration, optic nerve atrophy, giant gyrus, polymicrogyria, hydrocephalus, hyaline septum and

First, keep the environment clean and quiet, pay attention to moisture and cold, and actively prevent and treat complications such as respiratory infections.

Second, actively fight against the disease, adhere to appropriate recreational activities, promote patients to build an optimistic and cheerful mood, and build confidence to overcome disease with strong perseverance.

3. The diet should be light and nutrient-rich, avoid eating or eating greasy, over-taste, injury fluid and spleen and stomach damage products, you can eat more fish, eggs, chicken, lean pork, etc., but not too much to avoid damage Spleen and stomach.

Fourth, adhere to physical exercise, self-massage to increase activity, promote blood circulation and prevent muscle atrophy, but it should be moderate and not overworked.

5. Nerve-targeted repair therapy allows nerve growth factors to act on the site of injury through intervention. Activate dormant nerve cells, realize the self-differentiation and renewal of nerve cells, replace the damaged and dead nerve cells, rebuild the neural circuit, and promote the development of organs again. ^[1]

1. Eat a regular diet and pay attention to nutrition. Patients should eat foods high in protein, rich in vitamins, calcium, zinc and other foods, such as: lean meat, eggs, fish, shrimp, animal liver, ribs, fungus, mushrooms, tofu, day lily, etc. You can eat as much as possible, and do not eat foods that are too spicy, too salty, or too cold to be digested.

2.During the treatment period, patients with muscular dystrophy should avoid alcohol, tobacco, spicy foods, salty foods, shelter from the cold, prevent colds, drink plenty of water, and eat more foods containing more calcium and zinc. They should maintain a good mood and exercise properly. Patients' families should cooperate with massage, and patients should overcome difficulties and insist on proper exercise.

3. In the mental aspect, we must create a good and comfortable environment for patients with muscular dystrophy, encourage patients to actively receive treatment, and help patients build confidence to overcome the disease!

4. Muscular dystrophy patients should exercise within their ability, and not overwork. Upper limbs can practice lifting, push-ups, chest expansion, etc .; waist can practice sit-ups; lower limbs can practice squats, go upstairs, jumping, side leg compression, etc ; Pay attention to prevent contractures, apply proper traction to the knee and Achilles tendon joints after hot compress; massage the pseudo-hypertrophic area mainly by rubbing; prevent spinal deformity, maintain a good sitting posture, and should rest on your back after exertion.

5. In view of the progressive exacerbation of the disease and the high disability rate, early treatment and development of the disease can improve the quality of life, especially those with similar medical history in the family. It is necessary to attract attention and check and diagnose early. ^[2]