Fake muscle hypertrophy

Introduction Muscle pseudohypertrophy is a type of muscular dystrophy. Muscular dystrophy is mainly caused by genetic factors, and in addition to genetic factors, the patient's own genetic mutation can also cause the disease. Clinically, progressive muscle atrophy is the main clinical manifestation. Although many scholars have explored the etiology and pathogenesis of muscular dystrophy, it is still unclear. The possible pathogenesis of pseudo-hypertrophy (DMD) is a defect in the coding of exons 50 and 5 of the anti-Dystrophin gene located in XpZI. The gene for facial scapular muscular dystrophy is located at 4935, and the gene for limb-type muscular dystrophy is located on chromosome 15 or 16.

Cause

The possible pathogenesis of pseudo-hypertrophy (DMD) is a defect in the coding of exons 50 and 5 of the anti-Dystrophin gene located in XpZI.

The large-scale pseudo-fat is a recessive inheritance, male rickets, and women carry. It usually starts in early childhood. The performance is that the age at which walking can be delayed, walking slowly, falling easily, and not easy to climb after falling. Most of them have hypertrophy of the calf muscle, and the muscle strength of the initial hypertrophy is relatively strong. The gluteus medius is involved and causes the pelvis to swing up and down; the heel can not be touched with the heel; the lumbar muscles are affected and the abdomen is convex and the back of the brain. Duck-like gait. From the position of the cockroach, I only stand on my body with both hands and gradually stand up straight, then gradually get up. After the pelvic girdle was involved, the scapular muscles gradually atrophied and weak, and the two arms could not lift. The rhomboid muscle, the anterior serratus muscle, the scapularis muscle, the upper and lower muscles atrophy and the shoulder blades are free, and the scapula is winged, called the wing-like shoulder. The course of the disease is gradually developed, and some children may have a relatively stable or improved course of disease due to their own growth and development. Most sick children have lost their ability to walk at the age of 10, relying on a wheelchair or sitting down, and have spinal and limb deformities. In the advanced stage, the limbs are contracted and the activity is completely impossible. Often due to a pulmonary infection, hemorrhoids are equal to 30 years old before the death. IQ often has varying degrees of decline. More than half of the patients may have heart damage and abnormal ECG. Early manifestation of cardiac hypertrophy, generally asymptomatic except palpitations.

an examination

Related inspection

Electromyography muscle tension test

False fat large: X-linked recessive inheritance, is the most common type, according to clinical manifestations, can be divided into Duchenne type and Becker.

1. Duchenne type malnutrition (DMD): also known as severe pseudo-fat large-scale malnutrition, almost only seen in boys, if the mother is a gene carrier, 50% of male offspring, usually starting from 2-8 years old, The initial sense of walking benzene sputum, easy to fall, can not run and board the building, standing scalp, abdomen out, two feet open, walking slowly swinging, showing a special "duck step" gait, when walking from the back is very difficult, You must first roll over and prone, then climb your knees with both hands and gradually support the standing up (Gower sign). Can also be seen in the proximal muscles of the limbs, quadriceps and arm muscles.

2, Becker type (BMD): also known as benign pseudo-hypertrophic muscular dystrophy, often onset after 10 years of age, the first symptom is pelvic and femoral muscle weakness, slow progress, long course, 25 years after symptoms appear Or 25 years or more can not walk, most of them do not occur in the 30-40 years old, the prognosis is better.

Differential diagnosis

Need to be identified with the following symptoms:

Muscle hypertrophy: Muscle hypertrophy of the whole body, big fish, quadriceps, gastrocnemius, etc. can cause sniper muscle rigidity. Myotonic myyomyopathy (myotonicmyopathies) refers to a group of muscle diseases in which the affected skeletal muscles are not easy to relax after contraction, reduce or disappear after continuous contraction, and cold can make symptoms worse. Including myotonic dystrophy, congenital myotonia and accessory myotonia.

Muscular dysplasia: Congenital abdominal wall muscle dysplasia refers to a dysplasia of the anterior abdominal wall muscle is a rare congenital malformation. As early as 1839, Frolicll has reported that the most prominent feature of the disease is that the skin with a wrinkled large abdomen often has congenital malformations of the genitourinary system. In 1895, Parker began to call abdominal muscle dysplasia, cryptorchidism and congenital giant bladder as "triple malformation". Because of the lack of abdominal muscles or dysplasia, the abdominal wall was slack, and the skin formed wrinkles and the image was plum, so it was called plum dry belly. Osler (1901) will be combined with bladder dilatation hypertrophy, hydronephrosis, ureteral dilatation and testicular undescending deformity, and the image is named Prune-Belly syndrome (PBS). It has also been called the Eagle-Barrett synthesis. Signs, or lack of comprehensive abdominal wall, kettle abdomen syndrome.

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