What is Spinal Muscular Atrophy?
Spinal Muscular Atrophy (SMA) is an incurable automosal recessive disease caused by a genetic defect. The disease usually develops early in life and is the leading genetic cause of death in infants and toddlers.
Statistics
- Affects as many as 10,000 to 25, 2000 children and adults in the United States.
- One of the most common rare diseases.
- 1 in 6,000 to 1 in 10,000 children are born with the disease.
- 1 in 50 people are carriers of the disease.
Causes
Linked to a genetic mutation in the gene.
Symptoms
hypotonia in legs, arms, ribs, chest and facial muscles
difficulty in achieving developmental milestones
respiratory distress
difficulty in swallowing and feeding
lack of head control
decline in posture
Four Types of Spinal Muscular Atrophies
Infantile- stage 1
0-6 months
Develops in the first months of life.
Generally do not live past two years of life due to major body organs
shutting down very quickly
Intermediately- stage 2
6-18 Months
Affects children who are never able to
walk or stand but are able to maintain a sitting position. Symptoms are
usually noticed between the age of 6 and 18 months. As the body muscles are
weakened, the respiratory system is greatly affected.
Juvenile- stage 3
18 months+
Usually manifests after the age of 18
months. Symptoms include children who are able to walk and will later lose
this ability. Life expectancy is normal.
Adult onset- stage 4
Adulthood
Usually develops after the age of 30+
with gradual weakening of the muscles. Often will lose the ability to walk.
Life expectancy is normal.
Treatment
Physical Therapy
Occupational Therapy
Assistive Technology
Respiratory Care
Nutritional Care
I wanted to share with you the story of one family and their struggle with having a daughter born with SMA:
