General Information of Disease (ID: DISYRI69)

Disease Name Neuralgic amyotrophy
Synonyms brachial plexus neuritis; acute brachial plexus neuritis; mononeuritis multiplex with brachial predilection; immune brachial plexus neuropathy; neuralgic shoulder amyotrophy; Parsonage Turner Syndrome
Definition
Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.
Disease Hierarchy
DISZNG8A: Acquired peripheral neuropathy
DISYRI69: Neuralgic amyotrophy
Disease Identifiers
MONDO ID
MONDO_0017362
MESH ID
D020968
UMLS CUI
C1510479
MedGen ID
307145
Orphanet ID
2901
SNOMED CT ID
26609002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IK OTWSSXX0 Limited Biomarker [1]
SEPTIN9 OT1VMRFQ Moderate Autosomal dominant [2]
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References

1 Focused high-resolution sonography of the suprascapular nerve: A simple surrogate marker for neuralgic amyotrophy?.Clin Neurophysiol. 2017 Aug;128(8):1438-1444. doi: 10.1016/j.clinph.2017.04.030. Epub 2017 May 19.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.