This article provides an in-depth overview of spinal muscular atrophy (SMA), detailing its types, symptoms, and inheritance patterns. It aims to enhance understanding of this genetic disorder for better awareness and early detection, emphasizing the importance of medical consultation for diagnosis and care.

Spinal muscular atrophy (SMA) is a hereditary neurological disorder marked by progressive muscle weakening caused by nerve degeneration in the spinal cord and brainstem. It is among the leading genetic reasons for early childhood mortality but often remains unnoticed. This article explores the different SMA types and their typical signs to enhance awareness and understanding.

What is SMA?
Spinal muscular atrophy is a genetic disease impacting movement due to the deterioration of nerve cells within the spinal cord and brainstem. As a result, muscles weaken because they do not receive adequate nerve signals.

Passed down in an autosomal recessive manner, both parents must carry the faulty gene for their child to develop SMA. Its severity varies by type: Type 0 is extremely aggressive, present during fetal development, whereas types 1 to 4 appear from infancy into adulthood with decreasing severity in later stages.

Identifying SMA Symptoms
Symptoms differ based on the specific SMA type, each with unique features:

Type 0
Affects fetuses, leading to low muscle tone, joint issues, and respiratory muscle weakness.

Type 1
Appears in infancy, with difficulty holding the head, swallowing problems, breathing difficulties, and limp limbs.

Type 2
Emerges between 6 to 18 months, causing leg weakness, though most children can sit and stand unaided.

Type 3
Manifests from ages 2 to 17, allowing walking but causing challenges with running or climbing stairs.

Type 4
An adult-onset form with ongoing muscle weakness, twitching, and breathing issues.

Disclaimer: This article offers educational insights about SMA but is not a substitute for professional medical advice. Patients should seek consultation with healthcare providers for diagnosis and treatment options. The information is based on current research and may not cover all treatments or regional variations.