Spinal muscular atrophy type 2 is a genetic disorder causing muscle wasting and coordination problems in newborns. There is no cure, but treatment options such as bracing devices, surgery, physical therapy, and support from family members can help patients achieve some degree of independence. It is a rare autosomal recessive disease that affects children between six and 18 months old. The disorder can also prevent young children from feeding themselves due to lack of coordination and strength in the arm muscles. Most people with the disorder can have long and productive lives with proper treatment and support.
Spinal muscular atrophy type 2 is a genetic disorder that causes muscle wasting and coordination problems in newborns. A genetic mutation affects the production of a specific type of protein that nerve cells in the spinal cord need to survive. As neurons die, the muscles in the shoulders, arms, and legs become increasingly weak. Children with the disorder typically cannot stand or use their arms without assistance. There is currently no cure for spinal muscular atrophy type 2, but bracing devices, surgery, physical therapy, and support from family members can help patients achieve some degree of independence in their lives.
Most doctors recognize three or four types of spinal muscular atrophy, and patients are classified according to age at disease onset and the severity of symptoms. Type 2 generally appears when a child is between six and 18 months old. It is a rare autosomal recessive disease and both parents must be carriers of a specific mutated gene in order to pass the disease on to their offspring. The damaged gene fails to produce functioning survival motor neuron (SMN) proteins in the spinal cord. Neurons in the spine that control voluntary muscles degenerate rapidly without sufficient levels of SMN.
Type 2 spinal muscular atrophy has its greatest effects on the large muscles of the back, shoulders, arms and legs. Children with the disorder are usually unable to sit upright without assistance. They usually do not have the strength to learn to crawl or to stand on their arms when lying face down. The disorder can also prevent young children from feeding themselves due to lack of coordination and strength in the arm muscles. In some cases, severe breathing problems develop due to weakness in the chest, throat and mouth.
Doctors can usually diagnose spinal muscular atrophy type 2 based on physical symptoms and blood test results. Genetic testing of both the patient and his parents is done to confirm the disease. An examination called an electromyography may be done to assess the severity of the muscle wasting. Electromyography involves sending small electrical impulses to various muscle groups and measuring their reactions.
Treatment for spinal muscular atrophy type 2 typically involves a multifaceted approach. Two-year-olds can be fitted with leg braces or stand-up wheelchairs to help them develop some mobility. Physical therapy in the form of water exercises can help strengthen and preserve remaining muscles. As children grow older, ongoing therapy, electric wheelchairs and special education arrangements offer them the option of going to school. Most children with the disorder have normal intelligence and are able to learn and socialize as well as their peers.
Spinal muscular atrophy type 2 can cause scoliosis in late childhood or adolescence. Spinal fusion surgery may be considered to improve a patient’s posture and make it easier for him or her to move. With proper treatment and support from loved ones, most people with the disorder can have long and productive lives.
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