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GTR Home > Conditions/Phenotypes > Infantile-onset X-linked spinal muscular atrophy

Infantile-onset X-linked spinal muscular atrophy

Synonyms
AMC, distal, X-linked; ARTHROGRYPOSIS, X-LINKED, TYPE I; Arthrogryposis multiplex congenita, distal, X-linked; SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE; Spinal Muscular Atrophy, X-Linked Infantile; Spinal muscular atrophy, X-linked 2
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Spinal Muscular Atrophy, X-Linked Infantile
X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by congenital hypotonia, areflexia, and evidence of degeneration and loss of anterior horn cells (i.e., lower motor neurons) in the spinal cord and brain stem. Often congenital contractures and/or fractures are present. Intellect is normal. Life span is significantly shortened because of progressive ventilatory insufficiency resulting from chest muscle involvement.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Lisa Baumbach-Reardon
JM Hunter
Mary Ellen Ahearn
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Available tests

36 tests are in the database for this condition.

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Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: A1S9, A1S9T, A1ST, AMCX1, CFAP124, GXP1, POC20, SMAX2, UBA1A, UBE1, UBE1X, VEXAS, UBA1
    Summary: ubiquitin like modifier activating enzyme 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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