Spinal Muscular Atrophy (SMA)

Spinal Muscular Atrophy (SMA)

SMA, commonly known as spinal muscular atrophy, is a disease that takes away a person’s physical muscle strength. This disease can occur when the individual’s nerve cells do not produce the gene needed to produce protein. This protein is imperative to the function of nerve cells that maintain an individual’s proper muscle function.

Read on for the various types of SMA:

1. SMA Type 1
The most acute form of SMA. SMA Type 1 can be determined in the infant’s first six months. Infants with this type of SMA symptoms will have physical difficulties, characterized by muscle weakness and difficulty breathing. This type of SMA is also referred to as Werdnig-Hoffmann disease.

2. SMA Type 2
SMA Type II can be determined infants first six months of age, but before two years of age. SMA symptoms include difficulty sitting without help and difficulty walking without a wheelchair.

3. SMA Type 3
This type of spinal muscle atrophy main types can be determined after one year and a half in age. Usually, SMA Type 3 can be diagnosed also in teenagers. SMA Type 3 patients cannot walk and limited mobile ability. This limited mobile ability will typically require the patient to use a wheelchair. SMA Type 3 is also commonly referred to as Kugelberg-Welander disease.

4. SMA Type 4
SMA Type 4 is the most infrequent type of spinal muscular atrophy. SMA Type 4 typically is characterized by mild muscle motor impairment. Symptoms can be found in teenagers as soon as they reach 18 years of age. However, commonly SMA Type 4 begins in adults after the age of 35.

5. Werdnig-Hoffman Disease
Werdnig-Hoffman disease is a very rare form of SMA. One in fifty people are carriers. This type of spinal muscle atrophy main types affects the patients’ main neurons that transmit nerve impulses from the patient’s spinal cord.

The following types of SMA diseases are caused by mutations in genes (but not the SMN1 gene):

  • Spinal Muscular Atrophy Respiratory Distress: SMARD attacks the upper spinal cord. SMARD is found is infants. Symptoms include strong respiratory distress and deterioration in movements in the arms and connecting muscles. This disease is determined by genetic testing to see if a certain mutation is causing the babies’ symptoms.
  • Distal SMA: This SMA disease if the rarest form. This type of SMA disease is inherited. Distal SMA affects the patient’s mobility of their hands and feet.
  • Kennedy”s Disease: Kennedy’s disease only affects males between the ages of 30 and 50. Kennedy’s Disease is characterized by atrophy throughout the entire body. Symptoms include atrophy in the legs, arms, face, and throat. Patients with Kennedy’s disease have problems with speech, swelling, and severe muscle cramps. Kennedy’s Disease is an X-linked genetic disease.

Conclusion

SMA diseases should be treated by a physician familiar with the types of diseases and treatments. Physicians treating SMA diseases should be able to give care information to family members and caregivers.