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Symptoms and courseSpinal muscular atrophy is a genetically determined disease. It is passed on from generation to generation in an autosomal recessive manner. There are currently several types of the disease. In each of them, there is a mutation involving the locus 5q11.2-13.3.
The disease is commonly abbreviated SA from its English name: spinal muscular atrophy. In this disease, the anterior nuclei of the spinal cord and also the motor nucleus accumbens are damaged and degenerate. As a consequence, the patient has problems with skeletal muscles (their significant weakening), problems with walking, sitting, respiratory and circulatory insufficiency. Very often, sufferers have scoliosis and are very prone to various types of upper and lower respiratory tract infections.
To date, no cure has been discovered for SA patients. Symptomatic treatment and surgical procedures/surgeries to correct spinal lesions are used.
Symptoms and course spinal muscular atrophy
Pharmacological agents are constantly being sought to cure spinal muscular atrophy. In most cases, doctors are helpless against this disease and the patient dies as a result of respiratory or cardiac arrest. There are currently four main types of SA. These are:
- SA type I, which represents the worst prognosis for the patient. two subtypes are distinguished here: Ia (patient dies before the age of two) and Ib (death during adulthood). This type of disease is already apparent in newborns.
- SA type II, in which symptoms become apparent before the age of 18. This is an intermediate form of the disease.
- SA type III, where the first symptoms of the disease appear after the age of 18. This is the juvenile form of the disease.
- SA type IV, which is called the adult form, because the onset of symptoms occurs at about 35 years of age.
