ORPHA:481
Kennedy disease
Synonyms: SBMA · SMAX1 · X-linked BSMA · X-linked bulbospinal amyotrophy · X-linked bulbospinal muscular atrophy · X-linked spinal and bulbar muscular atrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adult
- Status
- active
Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kennedy disease | SBMA · SMAX1 · X-linked BSMA · X-linked bulbospinal amyotrophy · X-linked bulbospinal muscular atrophy · X-linked spinal and bulbar muscular atrophy |
| fr | Maladie de Kennedy | SBMA · SMAX1 · ASX1 · Amyotrophie bulbospinale liée à l'X · Atrophie musculaire spinale et bulbaire liée à l'X · BSMA liée à l'X |
| de | Kennedy-Krankheit | Muskelatrophie, spinobulbäre, X-chromosomale · SBMA · SMAX1 · X-chromosomale BSMA · X-chromosomale bulbo-spinale Muskelatrophie · X-chromosomale spinale und bulbäre Muskelatrophie |
| es | Enfermedad de Kennedy | Amiotrofia bulboespinal ligada al cromosoma X · Atrofia muscular bulbar y espinal ligada al cromosoma X · Atrofia muscular bulboespinal ligada al cromosoma X · Atrofia muscular espinobulbar asociada a SMAX1 · SBMA · SBMA ligada al cromosoma X · SMAX1 |
| it | Malattia di Kennedy | Amiotrofia bulbospinale legata all'X · Atrofia muscolare bulbospinale legata all'X · Atrofia muscolare spinale e bulbare legata all'X · Atrofia muscolare spinobulbare SMAX1-correlata · BSMA legata all'X · SBMA |
| nl | Ziekte van Kennedy | SBMA · SMAX1 · X-gebonden BSMA · X-gebonden bulbospinale amyotrofie · X-gebonden bulbospinale musculaire atrofie · X-gebonden bulbospinale spieratrofie · X-gebonden spinale en bulbaire musculaire atrofie · X-gebonden spinale en bulbaire spieratrofie |
| pt | Doença de Kennedy | Amiotrofia bulboespinhal ligada ao X · Atrofia muscular espinhal e bulbar · SBMA |
| pl | Choroba Kennedy'ego | BSMA sprzężony z chromosomem X · Opuszkowo-rdzeniowa amiotrofia sprzężona z chromosomem X · Opuszkowo-rdzeniowy zanik mięśni sprzężony z chromosomem X · SBMA · SMAX1 · BSMA sprzężona z chromosomem X |
| cs | Kennedyho nemoc | SBMA · SMAX1-vázaná spinobulbární svalová atrofie · X-vázaná BSMA · X-vázaná bulbospinální amyotrofie · X-vázaná bulbospinální muskulární atrofie · X-vázaná spinální a bulbární svalová atrofie |
| uk | Хвороба Кеннеді | SBMA · SMAX1 · X-звязаний BSMA · Х-зчеплена бульбоспінальна аміотрофія · Х-зчеплена бульбоспінальна мязова атрофія · Х-зчеплена спінальна та бульбарна мязова атрофія |
| zh | 肯尼迪病 | X连锁脊髓延髓肌萎缩 |
| tr | Kennedy hastalığı | SBMA · SMAX1 · X'e bağlı BSMA · X'e bağlı bulbospinal amiyotrofi · X'e bağlı bulbospinal kas atrofisi · X'e bağlı omurga ve bulber kas atrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 313200 | E | validated | |
| ICD-10 | G12.2 | NTBT | attributed | validated |
| ICD-11 | 8B61.4 | NTBT | index | validated |
| MONDO | 0010735 | E | validated | |
| UMLS | C1839259 | E | validated | |
| GARD | 6818 | E | validated | |
| MedDRA | 10068600 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:206707Bulbospinal muscular atrophy of adult
rare genetic diseases; rare neurological diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:399685Rare male infertility due to testicular endocrine disorder
rare genetic diseases; rare infertility disorders - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AR | Disease-causing germline mutation(s) in | Assessed | HGNC:644 | ENSG00000169083 | 313700 | Xq12 | androgen receptor |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.09 / 100 000 | Italy | Value and class | Validated | 11949733[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1.6 / 100 000 | Italy | Value and class | Validated | 11949733[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 100 000 | — | Italy | Class only | Validated | 11949733[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 100 000 | 7.6 / 100 000 | Finland | Value and class | Validated | 9724012[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.8 / 100 000 | Europe | Value and class | Validated | 9724012[PMID]_11949733[PMID]_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.
6
HPO phenotypes
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0000144 | Decreased fertility | |
| HP:0001260 | Dysarthria | |
| HP:0001618 | Dysphonia | |
| HP:0100639 | Erectile dysfunction | |
| HP:0001288 | Gait disturbance | |
| HP:0000771 | Gynecomastia | |
| HP:0001265 | Hyporeflexia | |
| HP:0001252 | Hypotonia | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0003119 | Abnormal circulating lipid concentration | |
| HP:0000029 | Testicular atrophy | |
| HP:0005978 | Type II diabetes mellitus | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/481
- This record as JSON: /data/d/481.json