MT-ATP6-related mitochondrial spastic paraplegia
Synonyms: Maternally-inherited SPG · Maternally-inherited spastic paraplegia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Adult
- Status
- active
A rare complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MT-ATP6-related mitochondrial spastic paraplegia | Maternally-inherited SPG · Maternally-inherited spastic paraplegia |
| fr | Paraplégie spastique mitochondriale associée à MT-AP6 | Paraplégie spastique de transmission maternelle · SPG de transmission maternelle |
| de | Mitochondriale spastische Paraplegie, MT-ATP6-assoziierte | SPG, maternal-vererbte · Spastische Paraplegie, mütterlich-vererbte |
| es | Paraplejía espástica mitocondrial asociada a MT-ATP6 | Paraplejía espástica de herencia materna · SPG de herencia materna |
| it | Paraplegia spastica mitocondriale correlata a MT-ATP6 | SPG a trasmissione materna |
| nl | MT-ATP6-gerelateerde mitochondriale spastische paraplegie | Maternaal overgeërfde SPG · Maternaal overgeërfde spastische paraplegie |
| pt | Paraplegia espástica motocondrial MT-ATP6-relacionada | Paraplegia espástica com hereditariedade materna |
| pl | Paraplegia spastyczna mitochondrialna zależna od MT-ATP6 | SPG odziedziczona od matki |
| cs | Maternálně dědičná spastická paraplegie | Maternálně dědičná SPG |
| uk | Мітохондріальна спастична параплегія, повязана з MT-ATP6 | Спастична параплегія, успадкована від матері · Успадкована по материнській лінії SPG |
| zh | MT-ATP6基因相关的线粒体痉挛性截瘫 | 母系遗传痉挛性截瘫 |
| tr | MT-ATP6-ilişkili mitokondriyal spastik parapleji | Maternal-geçişli SPG · Maternal-geçişli spastik parapleji |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.0Y | NTBT | attributed | validated |
| MONDO | 0017917 | E | validated | |
| UMLS | C4755299 | 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 (1):
- ORPHA:102013Complex hereditary spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 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 | 20656066[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 20656066[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20656066[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.
HPO phenotypes
17 annotations · validated 2018-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0012514 | Lower limb pain | |
| HP:0007020 | Progressive spastic paraplegia | |
| Frequent (79-30%) | ||
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0003477 | Peripheral axonal neuropathy | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0003487 | Babinski sign | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000819 | Diabetes mellitus | |
| HP:0008969 | Leg muscle stiffness | |
| HP:0005115 | Supraventricular arrhythmia | |
| Excluded (0%) | ||
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0000648 | Optic atrophy | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20656066[PMID]_23897027[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/320360
- This record as JSON: /data/d/320360.json