Context:
A 11-month-old child afflicted with a rare disease, spinal muscular atrophy (SMA)
About the Diseases:
- SMA is a genetic disorder that leads to progressive muscle weakness and atrophy.
- It is the degeneration of motor neurons within the spinal cord and brainstem controlling voluntary movements.
- Symptoms of SMA are as follows:
- muscular weakness, feeding, breathing difficulties, and a curved spine.
The four types include Type 1, Type 2, Type 3, and Type 4.
- Type 1 is the most severe and common, usually symptomatic from birth or during the first six months of life.
- Type 2 is an intermediate form, which may become symptomatic between 6 and 18 months.
- Type 3 is the mildest form and typically becomes symptomatic around 18 months or early childhood.
- Type 4 is the adult form and usually becomes symptomatic after age 35.
- SMA is inherited in an autosomal recessive pattern.
- Diagnosis is based on molecular genetic testing.
