ORPHA:2901
Neuralgic amyotrophy
Synonyms: Acute brachial plexus neuritis · Brachial plexus neuritis · Immune brachial plexus neuropathy · Mononeuritis multiplex with brachial predilection · Neuralgic shoulder amyotrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adult
- Status
- active
A rare 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neuralgic amyotrophy | Acute brachial plexus neuritis · Brachial plexus neuritis · Immune brachial plexus neuropathy · Mononeuritis multiplex with brachial predilection · Neuralgic shoulder amyotrophy |
| fr | Amyotrophie névralgique | Amyotrophie névralgique de l'épaule · Neuropathie immune du plexus brachial · Névrite aiguë du plexus brachial · Névrite du plexus brachial |
| de | Neuralgische Amyotrophie | Armplexusneuritis · Brachial-Plexus-Neuropathie, autoimmune · Brachialplexitis, akute · Neuralgische Schultermyatrophie · Schultergürtel-Syndrom |
| es | Amiotrofia neurálgica | Amiotrofia neurálgica del hombro · Mononeuritis múltiple con predilección braquial · Neuritis aguda del plexo braquial · Neuritis del plexo braquial · Neuropatía inmunitaria del plexo braquial |
| it | Amiotrofia nevralgica | Amiotrofia nevralgica della spalla · Mononeurite multipla con predilezione brachiale · Neurite acuta del plesso brachiale · Neurite da siero · Neurite del plesso brachiale · Neuropatia immune del plesso brachiale · Scapola alata |
| nl | Neuralgische amyotrofie | Acute brachiale plexus neuritis · Brachiale plexus neuritis · Immune plexus brachialis neuropathie · Mononeuritis multiplex met brachiale predilectie · Neuralgische schouderamyotrofie |
| pt | Amiotrofia neurálgica | Amiotrofia neurálgica do ombro |
| pl | Neuralgia amiotroficzna | Zapalenie splotu ramiennego · Amiotroficzna neuralgia ramienia · Ostre zapalenie splotu ramiennego · Immunologiczna neuropatia splotu ramiennego · Mnogie zapalenie pojedynczych nerwów z predylekcją do splotu ramiennego |
| cs | Neuralgická amyotrofie brachiálního plexu | Akutní neuritida brachiálního plexu · Neuritida plexus brachialis · Neuralgická amyotrofie ramene · Scapula alata · Imunitně podmíněná neuropatie plexus brachialis · Mnohočetná mononeuropatie s brachiální predilekcí |
| uk | Невралгічна аміотрофія | Гострий неврит плечового сплетіння · Неврит плечового сплетення · Імунна нейропатія плечового сплетіння · Мультиплексний мононеврит з ураженням плечового суглоба · Невралгічна аміотрофія плеча |
| zh | 神经痛性肌萎缩 | 单神经炎复合征伴上臂偏斜 |
| tr | Nevraljik amyotrofi | Brakiyal pleksus nevriti · Nevraljik omuz amiyotrofisi · Akut brakiyal pleksus nevrit · İmmun brakiyal pleksus nöropatisi · Brakiyal tercihli mononevrit multipleks |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 162100 | BTNT | validated | |
| ICD-10 | G54.5 | NTBT | inclusion | validated |
| ICD-11 | 8B91.0 | E | specific | validated |
| MONDO | 0017362 | E | validated | |
| MeSH | D020968 | E | validated | |
| UMLS | C1510479 | E | validated | |
| GARD | 4228 | E | validated | |
| MedDRA | 10029229 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:182086Acquired peripheral neuropathy
rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SEPTIN9 | Major susceptibility factor in | Assessed | HGNC:7323 | ENSG00000184640 | 604061 | 17q25.3 | septin 9 |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1.64 / 100 000 | United States | Value and class | Validated | 2996415[PMID]_[EXPERT] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Validated | [EXPERT] |
| Annual incidence | 1-9 / 100 000 | 3 / 100 000 | United Kingdom | Value and class | Validated | 10733998[PMID] |
| Lifetime Prevalence | 1-5 / 10 000 | 30 / 100 000 | United Kingdom | Value and class | Validated | 10733998[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
24 annotations · validated 2023-09-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002829 | Arthralgia | |
| HP:0003457 | EMG abnormality | |
| HP:0001271 | Polyneuropathy | |
| HP:0009129 | Upper limb amyotrophy | |
| HP:0003484 | Upper limb muscle weakness | |
| HP:0012513 | Upper limb pain | |
| Frequent (79-30%) | ||
| HP:0003401 | Paresthesia | |
| HP:0003691 | Scapular winging | |
| HP:0000912 | Sprengel anomaly | |
| Occasional (29-5%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001063 | Acrocyanosis | |
| HP:0000193 | Bifid uvula | |
| HP:0000175 | Cleft palate | |
| HP:0000286 | Epicanthus | |
| HP:0033748 | Hypoesthesia | |
| HP:0000160 | Narrow mouth | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0005989 | Redundant neck skin | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000311 | Round face | |
| HP:0012745 | Short palpebral fissure | |
| HP:0004322 | Short stature | |
| HP:0002360 | Sleep abnormality | |
| HP:0001159 | Syndactyly | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301569[PMID]_32487526[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2901
- This record as JSON: /data/d/2901.json