Understanding Type 2
Spinal Muscular Atrophy (SMA)
Type 2 Spinal Muscular Atrophy (SMA) is a progressive genetic disorder characterized by muscle weakness and motor function impairments. It typically manifests in early childhood, usually between 6 and 18 months of age.
Individuals with Type 2 SMA generally achieve the milestone of sitting independently but may experience challenges with walking. They often exhibit significant muscle weakness and may require assistive devices, such as braces or wheelchairs, to aid mobility. While muscle weakness is present, individuals with Type 2 SMA typically retain the ability to manipulate objects and perform self-care tasks with assistance.
Type 2 SMA is caused by mutations in the survival motor neuron 1 (SMN1) gene, leading to a deficiency of the survival motor neuron (SMN) protein. The reduced levels of this protein affect the health and functioning of motor neurons, resulting in progressive muscle weakness and motor impairments.
Diagnosing Type 2 SMA involves clinical evaluation, genetic testing to identify mutations in the SMN1 gene, and sometimes electromyography (EMG) to assess muscle and nerve function.
Although Type 2 SMA presents challenges and requires specialized care, individuals with this form of SMA often have a relatively longer life expectancy compared to more severe types of the condition. The progression of symptoms can vary, and some individuals with Type 2 SMA may maintain a stable condition for many years.
Management of Type 2 SMA involves a multidisciplinary approach, including physical therapy, occupational therapy, and adaptive equipment, to optimize mobility and enhance quality of life