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GTR Home > Conditions/Phenotypes > Arthrogryposis multiplex congenita 2, neurogenic type

Arthrogryposis multiplex congenita 2, neurogenic type

Synonyms
AMC, neurogenic type; Neurogenic arthrogryposis multiplex congenita; Neurogenic type of AMC
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Thomas W Prior
Meganne E Leach
Erika Finanger
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Available tests

2 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMC2, AMCN, ERGIC-32, ERGIC32, NET24, ERGIC1
    Summary: endoplasmic reticulum-golgi intermediate compartment 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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