X-linked progressive cerebellar ataxia
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
A rare X-linked cerebellar ataxia, characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked progressive cerebellar ataxia | |
| fr | Ataxie cérébelleuse progressive liée à l'X | |
| de | Ataxie, zerebelläre, X-chromosomale, Typ 1 | Kleinhirnataxie, X-chromosomale |
| es | Ataxia cerebelosa progresiva ligada al cromosoma X | |
| it | Atassia cerebellare progressiva legata all'X | |
| nl | X-gebonden progressieve cerebellaire ataxie | |
| pt | Ataxia cerebelosa progressiva ligada ao X | |
| pl | Postępująca ataksja możdżkowa sprzężona z chromosomem X | |
| cs | X-vázaná progresivní cerebelární ataxie | |
| uk | Х-зчеплена прогресуюча мозочкова атаксія | |
| zh | X-连锁进行性小脑共济失调 | |
| tr | X'e bağlı ilerleyici serebellar ataksi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 302500 | NTBT | validated | |
| OMIM | 302800 | NTBT | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | index | validated |
| MONDO | 0010547 | E | validated | |
| UMLS | C5231313 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:247765X-linked cerebellar ataxia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GJB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4283 | ENSG00000169562 | 304040 | Xq13.1 | gap junction protein beta 1 | 23773993[PMID] |
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.
HPO phenotypes
26 annotations · validated 2018-05-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002073 | Progressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0003447 | Axonal loss | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0002312 | Clumsiness | |
| HP:0200101 | Decreased/absent ankle reflexes | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001310 | Dysmetria | |
| HP:0003445 | EMG: neuropathic changes | |
| HP:0002359 | Frequent falls | |
| HP:0001347 | Hyperreflexia | |
| HP:0002080 | Intention tremor | |
| HP:0002070 | Limb ataxia | |
| HP:0001270 | Motor delay | |
| HP:0000639 | Nystagmus | |
| HP:0001761 | Pes cavus | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0001152 | Saccadic smooth pursuit | |
| HP:0002650 | Scoliosis | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0002464 | Spastic dysarthria | |
| HP:0002503 | Spinocerebellar tract degeneration | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0003487 | Babinski sign | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0002395 | Lower limb hyperreflexia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 23773993[PMID]_10797423[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1175
- This record as JSON: /data/d/1175.json