Spinal muscular atrophy is a type of genetic disorder which is characterized by progressive loss of motor neurons in the body. These nerve cells control the body’s muscle movement, and the absence of these nerve cells eventually results in atrophy and muscle weakness. The condition is categorized into four stages based on its severity. As the numbers go up, the severity of the condition decreases. This article discusses the most common type of spinal muscular atrophy, i.e., SMA type 1.
An overview of SMA type 1
This type of SMA is also known as Werdnig-Hoffman Disease. It is considered to be the most common of all the types of SMA. Children who are affected by this disease start to show symptoms before they turn six months old.
Cause
Spinal muscle atrophy in the body occurs because of a certain kind of genetic mutation. SMN1 is a particular gene that is responsible for giving particular instructions to the body to produce a protein. This protein is known as SMN and is required by our motor neurons for survival. Due to a defect in this gene, the body can develop spinal muscle atrophy.
Symptoms
In most cases, patients start exhibiting symptoms of this type of SMA in the first six months of their life. Hypotonia is considered to be a major symptom of SMA Type 1. In this problem, the patient suffers through a weak muscle tone, especially in the legs and arms. Some additional symptoms of this problem include the following:
- Difficulty in moving
- Difficulty in breathing
- Difficulty in swallowing
- Difficulty in eating
- Difficulty in sitting unaided during infancy
SMA Type 1 does not affect the cognitive ability of a child. They remain as bright, responsive, and alert as the other kids of their age.
Diagnosis
Since the cause of this problem is a genetic mutation, experts recommend taking a blood sample and checking for the SMN1 gene. For this particular type of SMA, the tests used include:
- Electromyography
- Muscle biopsy
Treatment
Unfortunately, there are no cures available for any of the types of SMA currently. However, SMA type 1 shows lesser severe symptoms as compared to SMA type 0. Hence, the symptoms can be managed in an easier manner. Your doctor may recommend nusinersen, which is a medication that can be used for controlling spinal muscle atrophy. It is the first therapy approved by the FDA (Food and Drug Administration) and can be prescribed for both, adults and children.
Spinal muscle atrophy is a rare disease. So, it is understandable that parents may find it initially difficult to navigate their lives with a child who is affected by this disorder. It is highly recommended you to undergo counseling sessions so that you know how life can be made easier with this disorder. You may even consider the option of genetic counseling so as to understand this disease better and help you manage it.
