Congenital myopathy

Introduction to congenital muscle deficiency Congenital abscesses (congenitalabsence of muscles) are relatively rare in clinical practice due to abnormal development of the fetus itself or mechanical obstruction in the uterus. Often manifested as a partial or total lack of a single muscle, can also be expressed as a lack of a certain group of muscles. If the missing muscle cannot be compensated by other normal muscles, malformations may occur. basic knowledge The proportion of illness: 0.001% Susceptible people: infants and young children Mode of infection: non-infectious Complications: ptosis of the upper eye

Congenital muscle deficiency

Cause:

The disease is mostly sporadic, and there are a few familial cases reported, but the genetic pattern is unknown.

Pathogenesis

Due to abnormal development of the fetus itself, or muscle development defects caused by mechanical compression in the uterus, extensive muscular dysplasia is mainly caused by fibrous atrophy with pathological changes of fibrosis and fat infiltration, which can lead to congenital multiple joint stiffness.

Congenital muscle deficiency such as prevention

There is no effective preventive measure for this disease. Early detection and early diagnosis are the key to the prevention and treatment of this disease.

Congenital muscle deficiency such as complications Complications, ptosis, torticollis

It can be complicated by congenital ptosis and torticollis, and can also lead to congenital multiple joint stiffness.

Congenital muscle deficiency such as symptoms, common symptoms, ptosis, muscle strain, sputum, reflex, disappearance

Any muscle in the body can be affected. Some children are born with low muscle tone, poor muscle strength, and sputum reflexes. Some muscle groups can be paralyzed. The proximal limbs and trunk muscles are more common, and the pectoralis major muscle is missing. Such as the most common, followed by the small chest muscle, trapezius muscle, sternocleidomastoid muscle, quadriceps muscle, anterior serratus, usually limited to one side or one muscle group, the muscle defects on both sides are only occasionally seen in the eye muscle Or facial muscles, lack of head muscles, so that congenital ptosis is the most common, may be partial or complete congenital ptosis, showing different symptoms and signs according to the lack of muscle parts and functions The palmar muscle defect does not cause any symptoms, but the lack of one side of the sternocleidomastoid can cause the torticollis. When the single muscle is absent, its motor function can be replaced by other muscles, so it usually does not cause dyskinesia, but it often Concurrent with other congenital anomalies on the same side.

Examination of congenital muscle deficiency

X-ray examination only showed bone and muscle atrophy.

Congenital muscle deficiency such as diagnosis and differentiation

Muscle deficiency is easier to diagnose, and some children show low muscle tone, poor muscle strength, and even some muscle groups.

According to the characteristics of the disease, the difference between the muscles and the progressive muscles should be different.

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