No teeth and protruding lips
Introduction
Introduction Facial shoulder-sputum muscular dystrophy is a clinical manifestation of muscular dystrophy characterized by: facial muscle weakness, often asymmetry, no teeth, lips, eyes closed and frowning. Muscular dystrophy is a group of primary skeletal muscle necrotic diseases characterized by progressive skeletal muscle weakness caused by genetic factors. It is clinically characterized by progressive and aggravated skeletal muscle atrophy and weakness in varying degrees and distribution. . Can also affect the heart muscle.
Cause
Cause
The cause of this disease is genetic abnormality, which can be carried out in different ways in different types, but the mechanism by which genetic factors ultimately cause muscle degeneration is still unclear.
Examine
an examination
Related inspection
Muscle tone examination electromyogram
According to typical genetic forms and major clinical manifestations, muscular dystrophy can be classified into the following types:
(1) False fat large: It belongs to X-linked recessive inheritance and is the most common type. According to clinical manifestations, it 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.
(B) face shoulder - scorpion muscular dystrophy: both men and women, adolescent onset, first facial muscle weakness, often asymmetry, can not show teeth, lips, eyes closed and frown, scapular muscles can have a fake Sexual hypertrophy, resulting in thick lips and lips, some shoulder and ankle muscles are first affected, so that the two arms can not lift up the shoulder, the upper arm muscles atrophy, but the forearm and hand muscles are not invaded. The course of the disease is extremely slow and often frustrated or relieved.
(3) Limb-type muscular dystrophy: both sexes are common, starting from children or young people, first affecting the pelvic girdle muscles and the psoas muscles, walking difficulties, not being able to climb the stairs, gait swinging, often falling, and some only Involved in the quadriceps. The course of the disease is extremely slow.
(D) other types: quadriceps type, distal type, progressive extraocular muscle paralysis type, eye muscle-pharyngeal muscle type, etc., very rare.
Diagnosis
Differential diagnosis
Juvenile proximal spinal muscular atrophy
The disease is also known as (Kugelberg-welder, progressive muscular atrophy), an autosomal dominant genetic disease. The onset of adolescents is mainly characterized by proximal muscle atrophy of the extremities, symmetric distribution, similar to myopathy, but fasciculation, electromyography is neurogenic damage, and muscle pathology is group atrophy, consistent with denervation.
2. Chronic polymyositis
Without a history of genetic disease, the disease progresses slowly, the symptoms often have ups and downs, and the degree of muscle weakness is more obvious than muscle atrophy. There is often pain and tenderness, and the blood sedimentation increases. Serum muscle enzymes are normal or slightly elevated, muscle pathology is consistent with changes in myositis, and corticosteroids are better.
3. Myasthenia gravis
Myasthenia gravis is aggravated after exercise, relieved after rest, no muscle atrophy and pseudo-muscle hypertrophy. Anticholinergic esterase agents are effective. Electromyography and muscle biopsy help to identify.
4. Myotonic dystrophy
The disease is rare and is autosomal dominant. Any age can be ill, first involving the small muscles of the distal hand and foot, no pseudo-hypertrophy, early manifestations of weakness in the distal part of the limb, occasionally facial muscle, eye muscle or throat muscle weakness. Progression is slow, and muscle rigidity and muscle atrophy gradually appear. Muscle atrophy is mainly at the distal end of the extremities, and can be developed to the facial muscles, masseter muscles, diaphragm muscles, and sternocleidomastoid muscles. Therefore, the patient's face is elongated and has an axe face and a gooseneck. Some patients may also have unclear speech and difficulty swallowing. Most patients have cataracts, alopecia, sexual dysfunction, infertility, and mental retardation. In the advanced stage, sputum and myocardial damage may occur, and serum enzymes may be normal or slightly elevated. Electromyography and muscle pathology help to identify.
