Paeds SMA Flashcards
Spinal muscular atrophy is categorised by
The progressive degeneration of anterior horn cells in the spinal cord and motor nuclei of the brain stem
General signs and symptoms
Muscle weakness and muscle atrophy due to denervation legs > arms and proximal> distal Weak cry Weak cough Tongue fasiculations Fine tremor in hand Jug handle position of arms Bell shaped chest Legs in frog position Bladder and bowel weakness
Diagnosis
Creating kinase levels are normal
Muscle biopsy large amount of atrophied muscle fibres
Normal nerve conduction
EMG shows denervation features
Types of SMA
Type 1 -Werdnig Hoffmann disease diagnosed shortly after birth
Type 2 intermittent SMA diagnosed before age of 2
Type 3 WKW disease diagnosed from 1 year to adolescence
Type 4 adult onset
Type 1 Werdnig Hoffmann disease presents as
Sometimes decreased movement in utero Severe hypotonia weakness Little movement of arms and legs Poor head control Weakness of intercostal muscles and the chest is often smaller and concave-respiratory distress Tongue fasiculations
Type 2 intermediate SMA presents as
May be able to sit unsupported May be able to stand Swallowing may not be a problem May have difficulty eating food to maintain weight Tongue fasiculations Fine tremor in outstretched fingers Weak intercostal muscles Scoliosis Decreased bone density can cause increased susceptibility to fractures
Type 3 Wolhlfart-Kugelberg-Welander disease
Can sit alone and walk
Early milestones are often normal
Once they are walking they may fall and may not be able to get up from sitting may be unable to run
Fine tremour can be seen in outstretched fingers
Feeding or swallowing difficulty are uncommon
Can lose the ability to walk later
Type 4 adult onset
Less common form
Symptoms begin before 35 (18-30)
Bulbar and respiratory muscle really affected
Physiotherapy intervention for SMA
-Prevention Chest infections Pressure sores contractures -Strengthening All limbs stomach muscles neck muscles
Physiotherapy interventions continued
Promote independence Chest physiotherapy (ACBT endurance) Education family Wheelchair mobility Ergonomics
What is SMA
Autosomal recessive genetic neuro muscular condition where the SMN gene is either mutated or missing
The gene is responsible for making survival motor neurone protein
SMA IS categorised by the progressive degeneration of the anterior horn cells in the spinal cord and motor nuclei of the brain stem
