Spinal muscle atrophy is a genetic, degenerative disease that is caused by the loss of motor neurons. This leads to muscle movement loss. The sufferer loses the ability to walk, sit up straight, or even move his or her neck this way. Though there is no cure for this disease, early diagnosis can help chart a treatment plan that improves the quality of life for the patient.
Diagnosis
- Physical examination
The first step is usually a physical examination since a few simple tests help the doctor in distinguishing spinal muscle atrophy from other conditions which show similar symptoms like muscular dystrophy. - Family history
Knowing the family history can be extremely helpful for the attending physician as it will make diagnosing faster and more efficient by quickly ruling out other possible conditions. - Blood test
An enzyme called Creatine Kinase (CK) leaks out of deteriorating muscles. High CK levels aren’t harmful, but they indicate that muscle damage has occurred. It should be noted that this is a non-specific test since CK levels are normally high in a lot of neuromuscular diseases. Still, it can be helpful. - Genetic testing
If the doctor suspects spinal muscle atrophy then genetic testing will be recommended. This is not only the least invasive method but is also an accurate way to diagnose this condition since it only requires a blood sample. - Muscle biopsy: This is done in rare cases, where a small sample of the muscle tissue is taken (usually from the thigh) and then sent to a lab for further tests.
- Nerve conduction velocity
This means that the speed with which signals travel along nerves is tested since the main reason for spinal muscle atrophy is that the brain signals don’t adequately reach the muscles. You might feel mild electric shocks during this. - Electromyography
This measures electrical activity in the muscle and is based on the same principle as the above (to assess the health of muscles and the resultant motor neurons which control them). During electromyography, short needles will be inserted into the muscles.
The objective of any treatment is to make the life of the patient easier and more independent. For this, a multidisciplinary approach is essential:
Surveillance
After the correct diagnosis a lot has to be checked:
- Overnight oximetry
- Coughing effectiveness
- Respiratory muscle function
- Forced vital capacity
- Swallow study with a video
- Physical and occupational therapy
- Assistive equipment evaluation
- Radiography of hip and spine
- Recognition of mandibular dysfunction is also important to prevent aspiration
Interventions
A lot of interventions have to be used to help the patient, which are as follows:
- Chest physiotherapy
- Noninvasive ventilation
- Nissen fundoplication
- Gastrostomy placement
- Using splints
- Braces
- Spinal orthoses
- Wheelchairs
Spinal muscle atrophy and pregnant women
Women who suffer from spinal muscle atrophy have an increased risk of miscarriage. The attributing reasons are as follows:
- There are high chances of caesarian delivery
- High chance of preterm deliveries
- Many patients noted deterioration of symptoms during the pregnancy term.
Women also suffer from hypertensive diseases as a result of spinal muscle atrophy.
While genetic testing is being further improved to test more accurately and specifically, but along with the patient, family members are also advised to seek diagnosis so that they can remain informed on whether they carry the gene or not.
