Spinal muscular atrophy

Abstract

Spinal muscular atrophy (SMA) is a genetic motor neuron disease characterized by progressive degeneration of motor neurons. Herein, a 12‑year‑old female child, born to healthy nonconsanguineous parents, was brought with the chief complaints of wasting and weakness of both lower limbs for 3 years. There was no family history of neurological illness. On examination, higher mental functions and cranial nerve examinations were normal. Typical worm‑like fasciculations were seen in tongue and both lower limbs. Upper extremities were less affected. The child was able to feed herself. Respiratory muscles were not affected. A diagnosis of SMA‑Type 3 (Kugelberg–Welander disease) was made on the basis of clinical presentation and subsequently, the diagnosis was genetically confirmed by molecular analysis of SMN gene. Electromyography showed spontaneous fibrillation at rest. Nerve conduction study was normal. No medical treatment was able to delay the progression. Supportive therapy includes orthopedic care and mild physiotherapy