Spinal Muscular Atrophy
This pamphlet is aimed at keeping you informed about Spinal Muscular Atrophy (SMA). It is important to be well-versed with the information herein since Spinal Muscular Atrophy continues to rob individuals of own physical abilities and strengths by interfering with their spinal cord-based motor nerve cells. SMA diminishes the capacity of those it affects to breathe, eat, and walk. Besides, SMA is significant since it is the principal genetic cause of infant mortality.
Signs and Symptoms
The typical signs along with symptoms related with SMA are:
- General muscle weakness, limpness, and poor muscle tone
- Areflexia (loss of flexibility)
- Difficulty attaining developmental milestones such as walking, standing and sitting (Rutkove et al., 2010)
- Children usually sit in a frog-leg position
- Diminished respiratory muscle strength
- Weak coughs
- Buildup of secretions on throats
- Torso assumes bell-shape (Heier, Satta, Lutz & Didonato, 2010)
- Tongue twitching (fasciculations)
- Pain when swallowing or sucking (Chen, Shih, Chen, Kuo & Jong, 2011)
- Poor feeding
Spinal Muscular Atrophy versus Healthy Body Functions
SMA is an uncommon neuromuscular disorder typified by motor neuron losses and continuing muscle wasting. The losses and wasting commonly occasion early death and the symptoms listed above. They as well cause mobility impairment. The muscles that waste first are those in the lungs and proximal muscles especially in the SMA’s early onset, hence the early expression of diminished respiratory muscle strength and weak coughs.
SMA’s Risk Factors and Preventive Measures
SMA, a genetic disorder, comes about when the SMN1 (Survival Motor Neuron Gene 1) mutates. Normal SMN1s produce proteins that help maintain the normal functioning of muscle-based nerves. The mutated SMN1s cannot maintain the normal functioning of muscle-based nerves and ultimately die (Rak, Lechner, Schneider, Drexl, Sendtner & Jablonka, 2009). The mutated SMN1s are recessive and are passed by parents to their progeny. To ensure that parents do not pass on the mutated SMN1s to their children, they should undergo genetic screening to confirm that they are devoid of the defective genes long before they plan to have babies.
Maintenance of Quality of Life
- Presently, there is no drug-based, or pharmacological, treatment for SMA.
- Persons with SMA benefit markedly from specific forms of occupational therapy and physiotherapy.
- They should be afforded the requisite orthotic (mobility support) devices to help them walk e.g. ankle foot orthoses and thoracic lumbar sacral orthoses (De Oliveira & Araújo, 2011)
- The SMA patients with compromised cough reflex may be assisted by non-invasive ventilation or undergo tracheostomy, which may affect speech development.
- The patients with swallowing, jaw opening or chewing challenges may be helped to feed using feeding tubes or via gastronomy.
- The patients should reduce their fat intake and avoid long-drawn-out fasting sessions.
- SMA patients should get adequate palliative care.
Diagnostic and Therapeutic Tools
- Markedly severe Spinal Muscular Atrophy is at times obvious prior to birth through decreased fetal movement.
- In young babies, SMA is typified by observable oddly low muscle tone
- Electromyogram shows muscle degeneration (wasting or denervation)
- SMA is confirmed via genetic testing for defective SMN1s (Dubowitz, 2009). the commonest SMA genetic test is MLPA. The testing can be:
- preimplantation testing
- prenatal testing
- carrier testing
- routine screening
Anticipated Outcomes and Prognosis
- By and large, SMA patients worsen over time although prognosis is dependent on the specific SMA and individual’s variability.
- Over 50% of children with Spinal Muscular Atrophy die before their fourth birthday owing to persistent respiratory problems.
- Intermediate SMA’s course progresses slowly and is somewhat stable.
- Persons with SMA have reduced life expectancies.
- Physiotherapy delays SMA’s progress.
Current Research Areas
Currently, SMA research is focused on:
- SMN1 Replacement
There are ongoing SMA research efforts geared towards the restoration of SMN1 functioning via the insertion of SMN1 transgenes.
- SMN2 Alternative Splicing Modulation
There is ongoing SMA research efforts geared towards enabling the modification of SMN2 genes’ alternative splitting to compel to code more of the SMN proteins coded by normal SMN1 genes (Evans, Cherry & Androphy, 2011).
Possible Future Research Areas
In future, there is a likelihood of SMA research relating to:
- The development of neuro-protective medicines to ensure that SMNs survive at decreased SMN protein levels
- The restoration of wasted muscles
- Development of stem-cell therapy for treating SMA (Mercuri & Bertini, 2012).
SMA diminishes the capacity of those it affects to breathe, eat, and walk. The typical signs along with symptoms related with Spinal Muscular Atrophy include general muscle weakness, limpness, and poor muscle tone plus Areflexia. SMA, a genetic disorder, comes about when the SMN1 (Survival Motor Neuron Gene 1) mutates. Presently, there is no drug-based, or pharmacological, treatment for SMA patients. The patients should get adequate palliative care. Electromyogram shows muscle degeneration and SMA is confirmed via genetic testing. In future, there is a likelihood of SMA research relating to the development of neuro-protective medicines.