How is spinal muscular atrophy treated?

I have spinal muscular atrophy and the prognosis is not optimistic. Spinal muscular atrophy first affects the limbs and trunk, and then affects the internal organs and nervous system. There is no specific treatment for this disease, but symptomatic supportive therapy can still be given. In particular, medical technology is developing rapidly, and the treatment methods for spinal muscular atrophy are constantly being updated. Gene therapy is one of the most promising treatments currently.

Spinal muscular atrophy (SMA), also known as spinal muscular atrophy, is a disease caused by the degeneration of motor neurons in the anterior horns of the spinal cord, leading to muscle weakness and atrophy. It is an autosomal recessive genetic disease and is not uncommon in clinical practice. According to the age of onset and the severity of muscle weakness, it is clinically divided into SMA-Ⅰ, SMA-Ⅱ, and SMA-Ⅲ, namely infantile, intermediate, and juvenile types. The common feature is the degeneration of the anterior horn cells of the spinal cord, and the clinical manifestations are progressive, symmetrical, widespread flaccid paralysis and muscular atrophy mainly in the proximal limbs. Intellectual development and sensory perception are normal.

Infantile spinal muscular atrophy

Also called SMA type I or Werdnig-Hoffmann disease. This type is the most serious of the three types. Some cases develop the disease in utero, with weaker fetal movements. Half develop the disease at birth or in the first few months after birth, and almost all develop the disease within 5 months. It is rare for patients to survive for 1 year. These children already have symptoms in the fetal period, with decreased fetal movements, obvious limb weakness, feeding difficulties and breathing difficulties after birth.

Intermediate spinal muscular atrophy

It is also called SMA-II, intermediate SMA or chronic SMA. It develops slightly later than type I, usually within 1 year of age, and progresses slowly. Children grow and develop normally at 6 to 8 months of age. Most cases show severe proximal muscle weakness, which is more severe in the lower limbs than in the upper limbs. Many children with type II can sit alone, and a few can even stand or walk with the help of others, but they cannot walk alone. Multiple micromyoclonus is the main manifestation. The respiratory and swallowing muscles are not affected, the facial muscles are not affected, and the sphincter function is normal. This type has a relatively benign course, with a survival period of more than 4 years and can survive beyond adolescence.

Juvenile Spinal Muscular Atrophy

Also known as SMA type III, also known as Kugelberg-Welander disease, Wohlfart-Kugelberg-Welander syndrome or mild SMA, is the mildest type of SMA. Symptoms of this disease appear in late childhood or adolescence, initially with abnormal gait and proximal muscle weakness in the lower limbs, which slowly progress to involve the distal lower limbs and upper limbs. Can survive into adulthood. It manifests as neuronal proximal muscle atrophy. Children with SMA type III who can walk may have a staggering gait, lumbar lordosis, abdominal protrusion, and may or may not have tendon reflexes. The time to maintain independent walking is closely related to the age of onset of myasthenia gravis. Those who develop the disease before the age of 2 will be unable to walk at around the age of 15, while those who develop the disease after the age of 2 can maintain the ability to walk until around the age of 50.