Spinal Muscular Atrophy is inherited disorder. Defective gene is the SMN1 gene which codes for SMN protein. Defect in this gene or its absence can cause death of motor neuron in the spinal cord leading to weakness of voluntary muscles.
Spinal Muscular Athrophy is a complex disorder with many different phenotypes and clinical courses. The most severe forms are autosomal dominant.
For additional information consult the link below.
https://www.orpha.net/consor/cgi-bin/Disease_Search_Simple.php?lng=EN&diseaseGroup=spinal+muscular+atrophy
Hope this can help.
Spinal muscular atrophy is inherited in an autosomal recessive pattern
https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy/#inheritance
There 4 known types
Spinal muscular atrophy type 0 is evident before birth and is the rarest and most severe form of the condition. Affected infants move less in the womb, and as a result they are often born with joint deformities (contractures). They have extremely weak muscle tone (hypotonia) at birth. Their respiratory muscles are very weak and they often do not survive past infancy due to respiratory failure. Some infants with spinal muscular atrophy type 0 also have heart defects that are present from birth (congenital).
Spinal muscular atrophy type I (also called Werdnig-Hoffmann disease) is the most common form of the condition.
Spinal muscular atrophy type II (also called Dubowitz disease) is characterized by muscle weakness that develops in children between ages 6 and 12 months. Children with this type can sit without support, although they may need help getting to a seated position.
Spinal muscular atrophy type III (also called Kugelberg-Welander disease) typically causes muscle weakness after early childhood. Individuals with this condition can stand and walk unaided, but over time, walking and climbing stairs may become increasingly difficult. Many affected individuals require wheelchair assistance later in life. People with spinal muscular atrophy type III typically have a normal life expectancy.
Spinal muscular atrophy type IV is rare and often begins in early adulthood. Affected individuals usually experience mild to moderate muscle weakness, tremors, and mild breathing problems. People with spinal muscular atrophy type IV have a normal life expectancy.
In autosomal recessive inheritance, a person who has SMA has inherited two altered (mutated) copies of the SMN1 gene from his or her parents. The parents of an individual with an autosomal recessive inherited disorder such as SMA are carriers of one copy of the altered gene
- Badges
- Science method
- Similar topics
- Biological Science
- Ecology