Speech Therapy in Spinal Muscular Atrophy
According to the American Speech-Language-Hearing Association, speech therapists work to improve human communication, swallowing difficulties, and disorders of upper aerodigestive functioning.1 Given that the same muscles are used for speech, swallowing, and clearing...
Spinal Muscular Atrophy: Fractures
Poor bone health is a consequence of Spinal Muscular Atrophy (SMA). Bone mineral density is significantly reduced1,2 in up to 50% of patients with SMA.3 Immobility and muscle weakness in SMA are significant risk factors for low bone mineralization, but bone density is...
Gastroesophageal Reflux Disease (GERD) in Spinal Muscular Atrophy
In a survey of patients with Spinal Muscular Atrophy (SMA), more than half of caregivers reported gastroesophageal reflux disease (GERD), and gastroesophageal motility issues are well-documented in patients with progressive neuromuscular disease.1,2 Esophageal...
SMN1-negative variants resembling Childhood Onset SMA
Spinal Muscular Atrophy (SMA) is a congenital motor neuron degenerative disorder typically resulting from loss of the SMN1 gene on chromosome 5q13.1 While homozygous loss of SMN1 has been reported to account for anywhere from 95%2 to approximately 50%3 of cases with...
Feeding, Swallowing, and GI Issues – Sitters
Children with spinal muscular atrophy (SMA) who are able to sit (i.e., “sitters”) often encounter substantial difficulties with chewing, choking, coughing, and food aspiration. While these issues are less severe in sitters than they are in non-sitters,...HCP — SMA News Today
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