Spinal Muscular Atrophy: Scoliosis

Spinal Muscular Atrophy: Scoliosis

Scoliosis is an early orthopedic complication of Spinal Muscular Atrophy (SMA).1 The estimated incidence of scoliosis in SMA types 1 and 2 ranges from 60-90%2 and is approximately 50% in SMA type 3.3 The etiology of scoliosis in SMA is weakness throughout the muscles...
Spinal Muscular Atrophy: Contractures

Spinal Muscular Atrophy: Contractures

Patients with progressive neuromuscular diseases like Spinal Muscular Atrophy (SMA) have extremity weakness that can predispose to contractures, defined as “a lack of full passive range of motion due to joint, muscle, or soft tissue limitations.”1 The etiology of...
Spinal Muscular Atrophy: Fractures

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...
Spinal Muscular Atrophy: Maximizing Quality of Life

Spinal Muscular Atrophy: Maximizing Quality of Life

Children with Spinal Muscular Atrophy (SMA) have complex medical needs which can lead to diminished quality of life.1 Historically, patients diagnosed with SMA and their families report significant stress and a low quality of life.2-4 It is incorrect to assume that...
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...