Understanding Spinal Muscular Atrophy
● Spinal Muscular Atrophy (SMA) is a progressive, neuromuscular, genetic disorder.
● It affects the motor neurons in the spinal cord and impairs movement.
● SMA is a genetic disorder that involves a problem with the SMN1 gene
● The only way an individual can contract SMA is if they inherit this faulty gene from both parents
Types of Spinal Muscular Atrophy (SMA)
● Type 0: rare, symptoms may manifest before birth or soon after
● Type 1: most common, diagnosed within first 6 months of birth
● Type 2: diagnosed between 6 months and 18 months
● Type 3: diagnosed after 18 months into early adulthood
● Type 4: very rare, symptoms manifest in early adulthood
Spinal Muscular Atrophy Symptoms
● Respiratory issues
● Weak/floppy limbs
● Tremors or twitching/shaking muscles
● Movement troubles (cannot crawl, walk, sit up without support)
● Scoliosis
● Chewing and swallowing troubles
● Bone fractures
Spinal Muscular Atrophy Symptoms
The symptoms of Type 1 SMA manifest in the first six months of life.
These symptoms are:
Floppy and weak limbs (hypotonia)
Respiratory issues
Very poor motor skills
Swallowing issues
Inability to raise head
The symptoms of Type 2 SMA manifest in babies when they’re around 7 to 8 months old.
They are:
Hypotonia
Tendency to develop scoliosis (curved spine) later
May be able to sit without support, but cannot stand/walk without support
May have tremors in fingers and hands
Respiratory issues - always at the risk of chest infection due to weak pulmonary muscles
Spinal Muscular Atrophy Symptoms
Symptoms of Type 3 SMA manifest as late as after 18 months of age. There have also been cases of the symptoms appearing in later childhood or early adulthood. The symptoms include:
● Difficulty in walking or getting up after being in a sitting position
● Proprioception and balance problems
● Slight tremors in fingers
● Inability to climb steps or run
● Inability to walk for long periods of time
Spinal Muscular Atrophy Symptoms
Type 4 (Adult-onset SMA)
Although Type 4 SMA is progressive, it does not lead to respiratory problems and dysphagia in all cases.
These symptoms begin in early adulthood. They are:
● Hypotonia
● Difficulty in walking
● Tremors ● Twitching muscles
Treatment of Spinal Muscular Atrophy Symptoms
Although SMA is a progressive condition, with the right support and treatment, its symptoms can be managed.
Early diagnosis and treatment can help improve the quality of life of the patient.
Treatment for SMA includes:
● Medication to target the faulty SMN1 gene
● Physiotherapy to help with movement and breathing
● Braces or corrective surgery to treat joint and spine problems
● Feeding tubes
● Stem cell therapy
● Speech therapy
● Occupational therapy