ORPHA:397750
Periodic paralysis with later-onset distal motor neuropathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Adolescent, Adult
- Status
- active
Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Periodic paralysis with later-onset distal motor neuropathy | |
| fr | Paralysie périodique avec neuropathie motrice distale tardive | |
| de | Periodische Paralyse mit später einsetzender distaler motorischer Neuropathie | |
| es | Parálisis periódica con neuropatía motora distal de inicio tardío | |
| it | Paralisi periodica con neuropatia motoria distale a esordio tardivo | |
| nl | Periodieke paralyse met later optredende distale motorische neuropathie | |
| pt | Paralisia periódica com neuropatia motora distal com início tardio | |
| pl | Porażenie okresowe z dystalną neuropatią ruchową o późnym początku | |
| cs | Periodická paralýza s distální motorickou neuropatií s pozdním nástupem | |
| uk | Періодичний параліч з пізньою дистальною моторною нейропатією | |
| zh | 周期性麻痹伴迟发性远端运动神经病 | |
| tr | Geç-başlangıçlı distal motor nöropati ile seyreden periyodik paraliz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 500010 | E | validated | |
| ICD-10 | G72.3 | NTBT | attributed | validated |
| ICD-11 | 8C74.1Y | NTBT | attributed | validated |
| MONDO | 0018343 | E | validated | |
| UMLS | C4751573 | 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 (4):
- ORPHA:371433Genetic periodic paralysis
rare genetic diseases - ORPHA:254776Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:206976Periodic paralysis
rare neurological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MT-ATP6 | Disease-causing germline mutation(s) in | Assessed | HGNC:7414 | ENSG00000198899 | 516060 | mitochondria | mitochondrially encoded ATP synthase membrane subunit 6 | 24153443[PMID] |
| MT-ATP8 | Disease-causing germline mutation(s) in | Assessed | HGNC:7415 | ENSG00000228253 | 516070 | mitochondria | mitochondrially encoded ATP synthase membrane subunit 8 | 24153443[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 24153443[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24153443[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397750
- This record as JSON: /data/d/397750.json