DESCRIPTION:
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications of the SMA. The diagnosis of SMA is established in a proband with a history of motor difficulties or regression, proximal muscle weakness, reduced/absent deep tendon reflexes, evidence of motor unit disease, AND/OR by the identification of biallelic pathogenic variants in SMN1 on molecular genetic testing. Increases in SMN2 copy number often modify the phenotype.

AVAILABLE OPTIONS:  Gene replacement therapy

LIMITATIONS:  No specific management discovered yet. The treatment through modern medicine is terribly expensive

Sansvitha Advantage:  A unique treatment approach is provided along the lines of AYUSH.  The treatment is aimed at improving the Quality of life and is not a complete cure.