Common signs and management options for SMA

Spinal muscular atrophy (SMA) is a genetic neuromuscular condition causing muscle weakness and wasting. SMA patients experience the depletion of motor neurons within the spinal cord. These specific nerve cells are crucial in regulating muscle movement. Without these motor neurons, muscles don’t receive nerve signals, making them weaker and smaller and curtailing movement. Approximately 10,000-25,000 children and adults in the country have SMA. Moreover, one in every 6,000 children is born with this rare condition.

Symptoms
SMA symptoms depend on its severity and type as well as the age of the patient. Some common signs include –

  • Difficulty swallowing and breathing
  • Muscle twitching and weakness
  • Difficulty sitting, walking, and standing
  • Changes in the shape of the chest, spine, and limbs due to muscle weakness

In Type-I or infantile-onset SMA, affected infants may experience symptoms such as reduced movement, chronic shortening of muscles, reduced muscle tone, lack of tendon reflexes, twitching, skeletal abnormalities, and problems with swallowing and feeding. These symptoms are clearly evident within 6 months of birth. 

Type-II SMA is diagnosed among children between 6 and 18 months old. It mostly affects the lower limbs. Noticeable symptoms may include inability to stand or walk without help and respiratory difficulties. 

Symptoms of Type-III SMA start appearing after 18 months. Children affected by this condition may be able to walk but experience difficulty running, getting up from a chair, and climbing stairs. It may also lead to other symptoms such as curvature of the spine, contractures, and respiratory ailments.

Type IV SMA is the mildest and rarest form of the condition. It develops after the age of 21 and may cause muscle weakness.

SMA is a degenerative condition, and therefore, the symptoms may aggravate over time. Many of these are not strictly SMA symptoms but complications stemming from muscle weakness. There are some options to help manage the condition.

Spinal muscular atrophy treatment and management
Presently, there is no cure for SMA. One can work with a doctor for managing symptoms, controlling flare-ups, and avoiding complications to help improve the quality of life. Some management options for SMA are 

Wheelchairs, support devices, and braces
These assistive devices may enable patients to live independently.

Ventilation assistance
Some SMA patients may have breathing issues and seek non-invasive ventilation. It can help prevent sleep apnea, but in extreme cases, ventilation may be needed even during the daytime.

Occupational and physical therapy
These help keep the joints flexible and reduce muscle wasting while improving circulation and flexibility. Moreover, specific therapies for chewing, speech, and swallowing may help. Further, proper feeding helps prevent aspiration (inhaling fluid or food into the airways or lungs) and ensures adequate nutrition. 

Several SMA treatment options to improve nerve and muscle function are under clinical trials.