Spinal Muscular Atrophy (SMA)
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Introduction[edit | edit source]
Spinal Muscular Atrophy (SMA) is a genetic condition under the scope of the neuromuscular disorders. It is characterised by degeneration of alpha motor neurons in the spinal cord.
Spinal Muscular Atrophy affects ...
Clinically Relevant Anatomy
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Mechanism of Injury / Pathological Process
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Clinical Presentation[edit | edit source]
Spinal Muscular Atrophy (SMA) is the second most common neuromuscular disorder of childhood. People affected by the mildest types of SMA have proximal weakness and impaired ambulation. Furthermore, fatigue is a symptom to present in almost every case of SMA which may also lead to impaired function and endurance. Current research in the area shows that there is good correlation between upper and lower limb function in patients with the disease. There are several types of SMA, which start at different ages and may present with various phenotype.
Types of SMA:[edit | edit source]
- SMA type I - affects babies less than six months old and is the most severe type of the disease
- SMA type II - develops in babies between 7 and 18 months old. This type is less severe than type I and most children survive into adulthood and can live long, fulfilling lives.
- SMA type III - appears after 18 months of age and is the least severe type affecting children. SMA type III has been divided into two further sub-categories: SMA IIIa and SMA IIIb - according to the time when the first symptoms of the condition appears (if before or after 3 years of age).
- SMA type IV - this type of SMA patients are diagnosed in adulthood and they present with only mild problems.
Diagnostic Procedures[edit | edit source]
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Outcome Measures[edit | edit source]
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Management / Interventions
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Respiratory Care[edit | edit source]
Differential Diagnosis
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Neuromuscular conditions:
- Duchenne Muscular Dystrophy
- Charcot-Marie-Tooth
- Amiotrophic Lateral Sclerosis
Resources and Useful Links[edit | edit source]
SMA REACH UK - Information Page
Spinal Muscular Atrophy Support UK
