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About Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) is a term applied to a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem. Symptoms Infantile SMA is the most severe form. Some of the symptoms... more

Spinal Muscular Atrophy (SMA) is a term applied to a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem.

Symptoms

Infantile SMA is the most severe form. Some of the symptoms include:
muscle weakness
poor muscle tone
weak cry
limpness or a tendency to flop
difficulty sucking or swallowing
accumulation of secretions in the lungs or throat
the legs tend to be weaker than the arms
feeding difficulties
increased susceptibility to respiratory tract infections
developmental milestones, such as lifting the head or sitting up, can't be reached.
In general, the earlier the symptoms appear, the shorter the life span. The onset is sudden and dramatic. Once symptoms appear the motor neuron cells quickly deteriorate shortly after. The disease can be fatal and there is no cure for SMA yet known. The major management issue in Type 1 SMA is the prevention and early treatment of respiratory infections; pneumonia is the cause of death in the majority of the cases. Infants with Type 1 SMA have a life expectancy of less than two years, however, some grow to be adults. Intellectual and later, sexual functions, are unaffected by SMA.

Types

Caused by mutation of the SMN gene
The most common form of SMA is caused by mutation of the SMN gene, and manifests over a wide range of severity affecting infants through adults. This spectrum has been divided arbitrarily into four groups by the level of weakness.

Infantile SMA - Type 1 or Werdnig-Hoffmann disease (generally 0-6 months). SMA type 1, also known as severe infantile SMA or Werdnig Hoffmann disease, is the most severe, and manifests in the first year of life with the inability to ever maintain an independent sitting position.

Intermediate SMA - Type 2 (generally 7-18 months). Type 2 SMA, or intermediate SMA, describes those children who are never able to stand and walk, but who are able to maintain a sitting position at least some time in their life. The onset of weakness is usually recognized some time between 6 and 18 months.

Juvenile SMA - Type 3 or Kugelberg-Welander disease (generally >18 months). SMA type 3 describes those who are able to walk at some time.

Adult SMA - Type 4. Weakness usually begins in late adolesceence in tongue, hands, or feet then progresses to other areas of the body. Course of disease is much slower and has little or no impact on life expectancy.

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