Progressive spinal muscular atrophies.
Spinal muscular atrophy is the most common autosomal-recessive genetic disorder lethal to infants. It was first described in the 1890s. Since then our understanding of the disorder has progressed significantly. Progression of the disease is due to loss of anterior horn cells, thought to be caused by apoptosis. Diagnosis is based on the course of the illness, as well as certain changes seen on nerve and muscle biopsy and electrodiagnostic studies. More recently, our understanding of the genetics of this disorder has provided a noninvasive approach to diagnosis. This method of testing has its downside, but the quest for a more sensitive analysis is still underway. Even though our knowledge of this disease has come a long way since its first recognition, the therapies available to these children are still only supportive. Again, researchers eagerly look for new therapeutic interventions to allow for improved quality of life and an extended life span.
Strober
J B
JB
Department of Neurology, Children's Hospital of Philadelphia, PA, USA. jstrobe@emory.edu
Tennekoon
G I
GI
D018450:Disease Progression; D005820:Genetic Testing; D006801:Humans; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000235:genetics / Q000628:therapy