Spinal Muscular Atrophy: Awareness and Attitudes

Spinal Muscular Atrophy: Awareness and Attitudes

There is a paucity of information on awareness of and attitudes towards spinal muscular atrophy (SMA) and medical approaches to the disease.1,2 However, research into what is known about SMA has revealed that the public is largely unfamiliar with SMA, and even...
Assistive Devices and Equipment: Oxygenation and Breathing 

Assistive Devices and Equipment: Oxygenation and Breathing 

Spinal muscular atrophy (SMA) is associated with serious respiratory system complications,1 and pulmonary disease is the primary cause of morbidity and mortality in both SMA type 1 and SMA type 2 patients.2 Given the frequency and extent of oxygenation and breathing...
Respiratory Care in Spinal Muscular Atrophy: Airway Clearance

Respiratory Care in Spinal Muscular Atrophy: Airway Clearance

Weakness in the respiratory system is a common and serious complication of spinal muscular atrophy (SMA),1 and pulmonary disease is the primary cause of morbidity and mortality in SMA type 1 and SMA type 2 patients.2 Muscle atrophy and hypotonia are directly related...
Spinal Muscular Atrophy: Caregiver Support

Spinal Muscular Atrophy: Caregiver Support

Caregivers of patients with Spinal Muscular Atrophy (SMA) report neglected aspects of their lives.1 Caregivers will need different kinds of support depending on factors such as the specific type of SMA their child has, whether they have other children, whether they...
Zolgensma

Zolgensma

In more than 95% of patients with spinal muscular atrophy (SMA), the disease is caused by a deletion in exon 7 of the Survival Motor Neuron 1 (SMN1) gene located on chromosome 5q13.1,2,3  Because the etiology of most cases of SMA can be traced back to this single...