X-linked Spinal Muscular Atrophy
This information is for if your child has been recently diagnosed with X-linked SMA.
What is X-linked SMA?
This very rare form of SMA appears in infancy and causes severe muscle weakness and difficulty breathing. Children often have misshapen joints that make movement difficult. Babies who are severely affected may be born with broken bones.
There’s limited information about X-linked SMA because it’s so rare, but your child’s medical team will be able to discuss how it will affect your child and how to manage symptoms for maximum comfort and quality of life.
Which gene is affected?
Some of the genes that cause rarer forms of SMA are associated with more than one condition, so please be aware that the website links suggested might provide information that is not just about SMA.
The affected gene is:
- UBA1 (X sex chromosome)1
Further information can be found here.
X-linked SMA has an X-linked Recessive inheritance pattern.
Support and resources
Phone: 01789 267520
Provides information and support for anyone in the UK affected by any form of SMA.
Phone: 0808 808 3555
Provides information and support for families with children with a disability.
Together for Short Lives
Phone: 0808 8088 100
Provides information, support and services for families of children who are expected to have short lives.
Author: SMA UK Information Production Team
Published: August 2018
Last updated: March 2019
Next full review due August 2021
1. Ramser et al. (2008) ‘Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy’, American Journal of Human Genetics, 82, pp. 188-193.
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