SPINAL MUSCULAR ATROPHY (SMA)

SPINAL MUSCULAR ATROPHY

Overview and Facts

Spinal muscular atrophy (SMA) is a group of hereditary diseases that cause frailty and deterioration of the skeletal muscles. It is commonly found in infants and children; however, rarely, it could also be seen in adults. It is one of the most prevalent hereditary disorders affecting children. Its chance of occurring in children is one in every 6000 to 10,000.

Due to the inadequate production of a protein called survival motor protein (SMN) that is essential to motor neurons, SMA occurs. SMN is produced by both genes SMN1 and SMN2; however, the latter produces SMN to a lesser extent. Both genes are located on chromosome 5. In normal individuals, there are two copies of both SMN1 and SMN2 in each of their motor neuron cells. However, those afflicted with the disease have both copies of the SMN1 gene having aberrations or are missing.

When this occurs, the child’s brain is already unable to direct the body’s voluntary muscles to move, thus weakening and wasting them away. Motor movements such as crawling, walking, and the likes prove to be difficult for the child.

Types and Symptoms

SYMPTOMS

The signs and symptoms of spinal muscular atrophy include the following:

  • Muscle weakness and muscle wasting
  • Limited coordinated muscle movement
  • Difficulty in breathing
  • Difficulty in eating and swallowing
  • Late gross motor movements
  • Involuntary tongue movements.
  • Scoliosis

Diagnosis & Medications

DIAGNOSIS

 

SMA is difficult to diagnose as it shares a lot of signs and symptoms with other illnesses. Doctors usually have differential diagnoses on patients to rule out other causes. Doctors usually diagnose if the child has muscle weakness and decreased muscle mass.

If your physician suspects that you have SMA, he/she may request the following diagnostics to confirm your diagnosis:

  • Electromyography (EMG) test
  • Creatine kinase (CPK) test

 

TREATMENT

Nusinersen (Spinraza) is the first drug to be approved by the FDA to treat children and adults with SMA in December 2016. Mutations in chromosome 5q that lead to SMN protein deficiency is treated by nusinersen, an antisense oligonucleotide.

Due to the unavailability of a cure for SMA, supportive treatment should be employed to improve the patient’s quality of life and to lessen disability, specifically those with slow progression of the disease.

The objective is the improvement of the patient’s quality of life and maximizing patient independence at each stage of the disease.

Adult-onset SMA and amyotrophic lateral sclerosis’ treatment is similar. However, the life span in SMA’s is considerably longer.

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