Spinal muscular atrophies are hereditary disorders in which nerve cells in the spinal cord and brain stem degenerate, causing progressive muscle weakness and wasting.
The disorders are usually inherited as an autosomal (not sex-linked) recessive trait. That is, two genes for the disorder are required, one from each parent (see Recessive disorders). These disorders may also affect the brain and spinal cord (central nervous system), as well as peripheral nerves. There are four main types of spinal muscular atrophy.
Symptoms of the first three types first appear during infancy and childhood.
In infantile (type 1) spinal muscular atrophy (Werdnig-Hoffmann disease), muscle weakness is usually apparent at or within a few days of birth. It is virtually always apparent by age 6 months. Infants lack muscle tone and reflexes and have difficulty sucking, swallowing, and eventually breathing. Death occurs in 95% of children within the first year and in all by age 4 years, usually due to respiratory failure.
In children with intermediate (type 2) spinal muscular atrophy, weakness typically develops between age 3 and 15 months. Fewer than one fourth of them learn to sit. None can crawl or walk. Muscles are weak, and swallowing may be difficult. Most children are confined to a wheelchair by age 2 to 3 years. The disorder is often fatal in early life, usually because of respiratory problems. But some children survive with permanent weakness that does not continue to worsen. These children often have severe curvature of the spine (scoliosis).
Type 3 spinal muscular atrophy (Wohlfart-Kugelberg-Welander disease) begins between age 15 months and 19 years and worsens slowly. Consequently, people with this disorder usually live longer than those with type I or II spinal muscular atrophy. Some of them have a normal life span. Weakness and wasting of muscles begin in the hips and thighs and later spread to the arms, feet, and hands.
Type IV spinal muscular atrophy first appears during adulthood, usually between the ages of 30 and 60 years. Muscles, mainly in the hips, thighs, and shoulders, become weak and waste away.
Diagnosis and Treatment
Doctors usually test for these rare disorders when unexplained weakness and muscle wasting occur in young children. Because these disorders are inherited, a family history may help doctors make the diagnosis. Electromyography and nerve conduction studies (see Electromyography and Nerve Conduction Studies) help confirm the diagnosis. The specific defective gene has been identified for some of the types and can be detected by blood tests. Occasionally, biopsy of a muscle is done. If there is a family history of one of the disorders, amniocentesis can be done to help determine whether an unborn child has the defective gene.
No specific treatments are available. Physical therapy and wearing braces can sometimes help. Physical and occupational therapists can provide adaptive devices to enable children to feed themselves, write, or use a computer.
Last full review/revision September 2012 by Michael Rubin, MDCM