Is there medication for SMA?

Gene therapy and antisense oligonucleotides exist but are costly.

Genetic Diseases

Genetic Testing for Spinal Muscular Atrophy (SMA)

SMA is an inherited motor neuron disorder causing progressive muscle weakness.

Autosomal recessive disease with loss of spinal motor neurons.

Progressive muscle weakness, respiratory and feeding difficulties, motor milestone delay.

Deletion or mutation of the SMN1 gene.

Autosomal recessive.

SMN1, SMN2 (disease modifier).

Couples before pregnancy and affected families.

MLPA for SMN1, carrier screening.

PGT-M and specialized prenatal testing are options for carrier couples.

Contact Gene Negar Ayandegan for sample submission, laboratory collaboration, or more information.