ORPHA:65684
Monomelic amyotrophy
Synonyms: Benign focal amyotrophy · Hirayama disease · JMADUE · Juvenile muscular atrophy of distal upper extremity · Juvenile muscular atrophy of the distal upper limb
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adolescent, Adult
- Status
- active
Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Monomelic amyotrophy | Benign focal amyotrophy · Hirayama disease · JMADUE · Juvenile muscular atrophy of distal upper extremity · Juvenile muscular atrophy of the distal upper limb |
| fr | Amyotrophie monomélique | Amyotrophie focale bénigne · Atrophie musculaire distale juvénile des extrémités supérieures · Atrophie musculaire distale juvénile du membre supérieur · JMADUE · Maladie de Hirayama |
| de | Amyotrophie, monomelische | Amyotrophie, benigne fokale · Hirayama-Krankheit · JMADUE · Juvenile Muskelatrophie der distalen oberen Gliedmaßen |
| es | Atrofia monomélica | JMADUE · Amiotrofia focal benigna · Atrofia muscular juvenil de las extremidades superiores distales · Enfermedad de Hirayama |
| it | Amiotrofia monomelica | Amiotrofia focale benigna · Atrofia muscolare distale giovanile dell'estremità superiore · Atrofia muscolare giovanile distale dell'arto superiore · JMADUE · Malattia di Hirayama |
| nl | Monomelische amyotrofie | Goedaardige focale amyotrofie · JMADUE · Juveniele musculaire atrofie van de distale bovenste ledematen · Juveniele musculaire atrofie van distale bovenste extremiteit · Juveniele spieratrofie van de distale bovenste ledematen · Juveniele spieratrofie van distale bovenste extremiteit · Ziekte van Hirayama |
| pt | Amiotrofia monomélica | Amiotrofia focal benigna · Atrofia muscular distal do membro superior, juvenil · Doença de Hirayama |
| pl | Amiotrofia monomeliczna | Choroba Hirayama · JMADUE · Łagodna ogniskowa amiotrofia · Młodzieńcza atrofia mięśni dystalnych kończyn górnych |
| cs | Monomelická amyotrofie | Benigní fokální amyotrofie · Hirayamova choroba · JMADUE · Juvenilní svalová atrofie horní končetiny distálně |
| uk | Мономелічна аміотрофія | Доброякісна фокальна аміотрофія · Хвороба Хіраяма · JMADUE · Ювенільна мязова атрофія дистального відділу верхньої кінцівки · Ювенільна мязова атрофія дистального відділу верхньої кінцівки |
| zh | 单肢肌萎缩 | 青少年上肢远端肌萎缩症 |
| tr | Monomelik amiyotrofi | JMADUE · Hirayama hastalığı · Selim fokal amyotrofi · Distal üst ekstremitenin jüvenil kas atrofisi · Distal üst ekstremitenin jüvenil kas atrofisi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602440 | E | validated | |
| ICD-10 | G12.8 | NTBT | attributed | validated |
| ICD-11 | 8B60.6 | E | specific | validated |
| MONDO | 0011224 | E | validated | |
| MeSH | C538253 | E | validated | |
| UMLS | C1865384 | E | validated | |
| GARD | 9697 | E | validated | |
| MedDRA | 10069681 | 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:98506Acquired motor neuron disease
rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CEP126 | Major susceptibility factor in | Assessed | HGNC:29264 | ENSG00000110318 | 614634 | 11q22.1 | centrosomal protein 126 | 22264561[PMID] |
| CPLANE1 | Major susceptibility factor in | Assessed | HGNC:25801 | ENSG00000197603 | 614571 | 5p13.2 | ciliogenesis and planar polarity effector complex subunit 1 | 22264561[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002817 | Abnormality of the upper limb | |
| HP:0007149 | Distal upper limb amyotrophy | |
| HP:0003457 | EMG abnormality | |
| HP:0001324 | Muscle weakness | |
| Frequent (79-30%) | ||
| HP:0003134 | Abnormality of peripheral nerve conduction | |
| HP:0002398 | Degeneration of anterior horn cells | |
| Occasional (29-5%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0002715 | Abnormality of the immune system | |
| HP:0002380 | Fasciculations | |
| HP:0001337 | Tremor | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 22032508[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/65684
- This record as JSON: /data/d/65684.json