Symptoms of Spinal muscular atrophy

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The effects of Type 1 SMA (Werdnig-Hoffmann Disease) are seen within the first few weeks or months of life, and can affect babies even before birth. Babies are limp and floppy because of the muscles affected. The baby will have difficulties with breathing and coughing, and is likely to be vulnerable to respiratory diseases and infections. Sadly, babies with Type I SMA are unlikely to live past their first birthday.

Babies with Type 11 SMA may be able to sit unsupported and some are able to crawl or stand, although this becomes more difficult as they get bigger. They may also be susceptible to respiratory infections, but this depends on the extent of which respiratory muscles are affected. Scoliosis (curvature of the spine) and deformities of the hands, feet and chest may develop in childhood, and joints may be affected by tendon contractures, which reduce movement of the limbs. Type II SMA usually starts in children between the ages of 3-24 months.

Children with Type III SMA (Kugelberg-Welander) will vary greatly. There may be some difficulty with walking and getting up from a sitting, negotiating stairs and balance may be a problem. The condition usually starts at around 2 years old. Children with SMA are often of above average intelligence, however disability varies depending on the muscles affected.

Spinal Muscular Atrophy does not usually get worse over time, although factors such as growth spurts in teenage years, illness or emotional stress may lead to deterioration. There may also be deterioration due to increasing body weight, which puts additional strain on the limited muscle function.

The effects of Adult Onset SMA depend upon which muscles are affected. In the majority of cases weakness starts off in one side of the body and progresses to the other. Fatigue is also common. Individuals vary enormously when predicting any pattern of progression.

Kennedy's Syndrome occurs only in males, although 50% of female offspring are carriers. It is associated with a mutation in the gene that codes for part of the androgen receptor and therefore these male patients often have breast enlargement.