Dictionary > Familial spinal muscular atrophy

Familial spinal muscular atrophy

Familial spinal muscular atrophy –>
infantile spinal muscular atrophy
transmitted as autosomal recessive on chromosome 5q. Progressive dysfunction of the anterior horn cells in the spinal cord and brainstem cranial nerves with profound weakness and bulbar dysfunction occurring in the first two years of life. Three groups, based on age of clinical onset, are recognised.
Synonym: familial spinal muscular atrophy, Hoffmann’s muscular atrophy, infantile muscular atrophy, infantile progressive spinal muscular atrophy, progressive infantile spinal muscular atrophy, werdnig-hoffmann disease, Werdnig-Hoffmann muscular atrophy.


You will also like...

Geological Periods
Geological Periods

Geological periods is a study guide that cites the different geological periods on Earth's timeline. Each has a brief ov..

Gibberellins and Gibberellic Acid
Gibberellins and Gibberellic Acid

This tutorial describes the role of gibberellin family in plants. Find out the effects of gibberellin on plant growth an..

"Cronopio dentiacutus", a prehistoric mammal (an illustration)
Mammalian Ancestors

Mammals are a diverse group of organisms, where most of them develop their offspring within the uterus of the mother. Ov..

Biosecurity and Biocontrol
Biosecurity and Biocontrol

This lesson explores the impact of biosecurity threats, and why they need to be identified and managed. Examples to incl..

Schematic diagram of DNA replication
DNA Structure & DNA Replication

DNA is a double helix structure comprised of nucleotides. A nucleotide, in turn, is made up of phosphate molecule, deoxy..

Selective Breeding
Selective Breeding

Gregor Mendel's studies into Monohybrid and Dihybrid crossing and Charles Darwin's study of evolution and natural select..