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Infantile spinal muscular atrophy

Better Health Channel (Australia), 2004

The instruction to contract a muscle is sent from the brain along the spinal cord and through the motor neurones to the muscle fibres.
Spinal muscular atrophies are inherited disorders characterised by the deterioration of these motor neurones.
The brain stem sits on top of the spinal cord and oversees the functioning of the face, jaw, tongue, eyes and throat.
The symptoms of infantile spinal muscular atrophy (infantile SMA) appear before the age of two years, and are sometimes present at birth.
The categories include: Infantile SMA - also known as Type 1 SMA or Werdnig-Hoffman disease Intermediate SMA - Type 2 SMA Juvenile SMA - also known as Type 3 SMA or Kugelberg-Welander disease Adult onset SMA - Type 4 SMA.
The symptoms include: Muscle weakness Poor muscle tone Weak cry Limpness or a tendency to flop 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.
If a couple already has a child with the disorder, each of their subsequent children has a 25 per cent chance of inheriting the disorder too.
Pneumonia is a type of lung infection where the smallest airways, called the alveoli, are blocked with mucus and secretions.
For instance, since a child with infantile SMA is prone to respiratory infections and pneumonia, treatment focuses on trying to maintain the child's lung function and health.
Usually, a team of professionals - paediatricians, physiotherapists, neurologists, and respiratory physicians and therapists - work together to help improve the child's quality of life.
(03) 9320 9555 or 1800 656 632 Things to remember Infantile spinal muscular atrophy is an inherited condition.