Spinal muscular atrophy other forms

Spinal Muscular Atrophy Microchapters

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Editors-in-Chief: C. Michael Gibson, M.S., M.D.; Priyamvada Singh, MBBS

## Contents

* 1 Overview
* 1.1 Other Forms
* 2 References
* 3 External links

## Overview[edit | edit source]

### Other Forms[edit | edit source]

Spinal muscular atrophy (SMA) is a collection of different muscle diseases. Grouped together, it is the second leading cause of neuromuscular disease. The autosomal recessive SMA is the commonest type (>95%) and is caused by the mutation in the chromosome 5q13. The non-5q13 associated spinal muscular atrophies, are a heterogeneous group of motor neuron diseases associated with mutations in a variety of different known genes and others not yet defined (e.g. X linked, autosomal dominant, mutations in IGHMBP2 gene on chromosome 11q). Patients with these disorders generally have some clinical characteristics that can help differentiate them from those with 5q13-associated or “proximal” SMA. All forms of SMA have in common weakness caused by denervation, that is, the muscle atrophies because it has lost the signal to contract due to loss of the innervating nerve. Spinal muscular atrophy only affects motor nerves. Heritable disorders that cause both weakness due to motor denervation along with sensory impairment due to sensory denervation are known by the inclusive label Charcot-Marie-Tooth or Hereditary Motor Sensory Neuropathy. The term spinal muscular atrophy thus refers to atrophy of muscles due to loss of motor neurons within the spinal cord.

* Hereditary Bulbo-Spinal SMA Kennedy's disease (X linked, Androgen receptor)
* Spinal Muscular Atrophy with Respiratory Distress (SMARD 1) (chromsome 11, IGHMBP2 gene)
* Distal SMA with upper limb predominance (chromosome 7, glycyl tRNA synthase)
* X-Linked infantile SMA (gene UBE1)[1][2]

## References[edit | edit source]

1. ↑ AJHG - Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy
2. ↑ Years-Long Search Unlocks Deadly Genetic Disease

## External links[edit | edit source]

* Template:NINDS
* SMA Support
* Spinal Muscular Atrophy - Fight SMA \- An international nonprofit dedicated to finding a treatment or cure for spinal muscular atrophy. Visit Fight SMA's website and also the Spinal Muscular Atrophy Blog for the latest news and research information about the leading genetic killer of children under two.
* Families of Spinal Muscular Atrophy \- An international nonprofit dedicated to advancing research and supporting individuals and families with sma. FSMA has a web site with news, information and message boards for individuals to post questions. FSMA is one of the largest US private funders of SMA research and has more than 30 chapters worldwide.FSMA
* SMA Trust \- a UK registered charity working to fund medical research into Spinal Muscular Atrophy
* Jennifer Trust for Spinal Muscular Atrophy \- A national charity in the UK dedicated both to supporting people affected by SMA, and investing in essential research into causes, treatments and eventually a cure for the condition

Template:Diseases of the nervous system

da:Spinal muskulær atrofi de:Spinale Muskelatrophie el:Νωτιαία μυϊκή ατροφία nl:Spinale Musculaire Atrofieën fi:Spinaaliset lihasatrofiat sv:Spinal muskelatrofi

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