Childhood-onset spasticity with hyperglycinemia
Synonyms: Childhood-onset spasticity with variant non-ketotic hyperglycinemia · Spasticity-ataxia-gait anomalies syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Childhood-onset spasticity with hyperglycinemia | Childhood-onset spasticity with variant non-ketotic hyperglycinemia · Spasticity-ataxia-gait anomalies syndrome |
| fr | Spasticité de l'enfant avec une hyperglycinémie non cétosique | Syndrome spasticité-ataxie-anomalies de la marche |
| de | Spastik mit Hyperglyzinämie, im Kindesalter beginnend | Im Kindesalter beginnende Spastik mit nicht-ketotischer Hyperglyzinämie-Variante · Spastik-Ataxie-Ganganomalien-Syndrom |
| es | Espasticidad de inicio infantil con hiperglicinemia | Espasticidad de inicio en la infancia con hiperglicinemia no cetósica · Síndrome de espasticidad-ataxia-anomalías de la marcha |
| it | Spasticità ad esordio infantile con iperglicinemia | |
| nl | Spasticiteit met hyperglycinemie met aanvang in de kindertijd | Spasticiteit - ataxie - ganganomalieën-syndroom · Spasticiteit met variante niet-ketotische hyperglycinemie met aanvang in de kindertijd |
| pt | Espasticidade com hiperglicemia de início na infância | Síndrome de espasticidade-ataxia-anomalias na marcha |
| pl | Zespół spastyczność-ataksja-anomalie chodu | = en |
| cs | Syndrom zahrnující spasticitu, ataxii a anomálie chůze | = en |
| uk | Дитяча спастичність з гіперглікемією та гіперглікемією | Дитяча спастичність з варіантом некетозної гіперглікемії · Синдром спастичнсті, атаксії та порушенням ходи |
| zh | 童年发作性痉挛伴高氨酸血症 | 儿童期发病痉挛伴非酮症性高甘氨酸血症 |
| tr | Hiperglisinemi ile seyreden çocukluk çağı-başlangıçlı spastisite | Spastisite-ataksi-yürüyüş anormallikleri sendromu · Ketotik olmayan hiperglisinemi varyantı ile seyreden çocukluk çağı başlangıçlı spastisite |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616859 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.Y | NTBT | attributed | validated |
| MONDO | 0014803 | E | validated | |
| UMLS | C4225178 | 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 (3):
- ORPHA:401854Lipoic acid biosynthesis defect
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:316226Spastic ataxia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLRX5 | Disease-causing germline mutation(s) in | Assessed | HGNC:20134 | ENSG00000182512 | 609588 | 14q32.13 | glutaredoxin 5 | 24334290[PMID]_24777537[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24777537[PMID]_17485548[PMID]_24334290[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17485548[PMID]_24334290[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
25 annotations · validated 2018-05-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008288 | Nonketotic hyperglycinemia | |
| HP:0002191 | Progressive spasticity | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | |
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0002415 | Leukodystrophy | |
| HP:0008945 | Loss of ability to walk in early childhood | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000736 | Short attention span | |
| HP:0001264 | Spastic diplegia | |
| HP:0002464 | Spastic dysarthria | |
| HP:0100561 | Spinal cord lesion | |
| HP:0002317 | Unsteady gait | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0002376 | Developmental regression | |
| HP:0011968 | Feeding difficulties | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000737 | Irritability | |
| HP:0001336 | Myoclonus | |
| Very rare (<4-1%) | ||
| HP:0001712 | Left ventricular hypertrophy | |
| Excluded (0%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0002151 | Increased circulating lactate concentration | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 26100117[PMID]_24334290[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401866
- This record as JSON: /data/d/401866.json