How Do I Choose the Best Duchenne Muscular Dystrophy Treatment?

Duchenne Muscular Dystrophy (DMD) is a hereditary muscular dystrophy. Its gene (Dystrophin gene) exists on the X sex chromosome (Xp21), so it is transmitted through a sex-linked recessive genetic pattern. Men have only one x sex chromosome, so most of the patients are men; if one of a pair of x sex chromosomes of a woman carries a variant Dystrophin gene, she becomes a carrier of DMD, and her son has a half chance Being sick, her daughter has a one-half chance to become a carrier of the DMD gene.

Duchenne muscular dystrophy

Juchen's muscular dystrophy (Duchenne Muscular Dystrophy, DMD) or Du Xian's muscular dystrophy is a sex-linked recessive genetic disease, also known as pseudohypertrophic muscular dystrophy. Severe muscular dystrophy.

Duchenne muscular dystrophy source

Due to genetic mutation defects, muscle cells cannot normally produce a protein called Dystrophin, which will cause calcium ions to penetrate into the cells, triggering a waterfall response, resulting in muscle weakness in patients, and due to the lack of Dystrophin in the muscle cells, the cell tissue muscle fibers become It is weak and fragile. After a long period of stretching, the missing muscle cell tissue will cause mechanical damage .. and other factors to destroy it and eventually cause muscle cell death. About 65% of cases are recessive through sex chromosomes; 35% are due to genetic mutations. ^[1]

Duchenne muscular dystrophy classification

Hereditary muscular dystrophy can be divided into:

Progressive malnutrition is clinically characterized by progressively aggravated muscle atrophy and weakness. This is a genetic disease that is caused by a gene deficiency. There is no effective treatment. The prevention and treatment methods are mainly genetic counseling and prenatal inspection. Carrier genealogy analysis and inspection are important measures to prevent the occurrence of this disease in the next generation.

The Dystrophin gene is one of the larger known human genes. Its manufactured product, Dystrophin, and other related proteins are an important part of stabilizing muscle cell membranes. Its most important function is to maintain the stability of muscle cells so that it will not be damaged during muscle contraction. Due to the lack of Dystrophin in muscles of patients with Duchenne's disease, muscles are constantly damaged since birth And shrink. The Dystrophin gene is also affected by another minor mutation that causes Becker's Muscular Dystrophy (BMD), which is less severe. ^[1]

Duchenne muscular dystrophy symptoms

Duchenne muscular dystrophy

Unstable pace

Easy to fall

Bad at work (running and jumping)

Increasingly difficult mobility

Traveling ability usually disappears at the age of 12

Easily fatigued

Mild mental retardation (approximately 30% of patients)

Skeletal malformation (scoliosis in some cases)

Muscular dysplasia

Calf muscle abnormal enlargement (Pseudohypertrophy) (the normal tissues of these muscles are replaced by hardened tissues)

Duchenne's muscular dystrophy

Duchenne muscular dystrophy eventually affects all smooth muscles, as well as the heart and respiratory muscles. Patients rarely survive the age of 35. Patients generally die from respiratory failure or cardiac dysfunction. ^[1]

Signs of Duchenne muscular dystrophy

Onset usually before the age of 5 years;

The clinical feature is progressive symmetrical muscle weakness, which is more common in the proximal limbs, and usually begins in the lower limbs;

Physical examination showed no muscle tremor, no sensory disturbance, and most were accompanied by pseudohypertrophy of the gastrocnemius muscle;

Serum creatine creatase (CK) increased tens or hundreds of times;

EMG showed myogenic damage;

Muscle biopsy showed different lengths of muscle fibers, necrosis and degradation, fiber transparency, compensatory hyperplasia of connective tissue and adipose tissue, and loss of dystrophin by immunohistochemistry

Has a family history and is X-linked recessive;

The condition worsened progressively. ^[1]