WHAT IS SMA TYPE I INFANTILE SMA OR WERDNIG-HOFFMAN DISEASE This is the most severe form and despite the interventions offered is always fatal. Some mothers may notice reduced fetal movement during the last trimester, but most children appear normal at birth before loss of movement in their limbs is noticed. Most symptoms appear before six months of age, though the earlier Spinal Muscular Atrophy is diagnosed the more severe the situation and the prognosis for the child. Key features include: Poor head control or loss of head control since birth. Weak cry and cough. Difficulties swallowing and chewing. Poor or lack of tendon reflexes. Weakness of muscles of the chest wall. Difficulties/inability to cough or breathe deeply. Weakness of muscles of the arms and legs resulting in an inability to roll or sit. A bell shaped stomach or belly breathing which results from using muscles and collapse of the chest wall. Trembling (fasciculation) or shrinking (atrophy) of the tongue; clinical signs unique to children with SMA. Type 1 children risk breathing in (aspirating) milk, formula or saliva into their lungs, hence they are at significant risk of respiratory infection and pneumonia. Poor head control may present a risk of blocking the airway, therefore handling, cuddling and transporting a small child with such little head control can be dangerous for them. Laying the child on a firm angled pillow and providing regular turning massage and chest physio will assist the removal of saliva, assist feeding and provide necessary comfort through touch. Feeding by a nasogastric tube (through the nose) or through a PEG (Percutoneous Endoscopic Gastrostomy placement) in the stomach may be required. Spinal Muscular type 1 children will never sit, and rarely live beyond more than 2 years of age. Children with type 1 Spinal Muscular Atrophy and their carers face a difficult battle for survival. At constant risk of respiratory infection and pneumonia, and issues with feeding, constipation, airway maintenance and ensuring healthy bodily function presents real emotional, physical and financial challenges for parents.
Posted on: Fri, 30 Aug 2013 08:38:46 +0000
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