Roussy-Lévy syndrome
Synonyms: Hereditary areflexic dystasia, Roussy-Lévy type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare demyelinating hereditary motor and sensory neuropathy characterized by prominent gait ataxia, pes cavus, tendon areflexia, distal limb weakness, tremor in the upper limbs, distal sensory loss, kyphoscoliosis, and progressive muscle atrophy. The disease becomes symptomatic in infancy or childhood, mode of inheritance is autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Roussy-Lévy syndrome | Hereditary areflexic dystasia, Roussy-Lévy type |
| fr | Syndrome de Roussy-Lévy | |
| de | Roussy-Lévy-Syndrom | Areflektorischen Dystasie, hereditäre, Typ Roussy-Levy |
| es | Síndrome de Roussy-Lévy | Distasia arrefléxica hereditaria, tipo Roussy-Lévy |
| it | Sindrome di Roussy-Lévy | Distasia areflessica ereditaria, tipo Roussy-Lévy |
| nl | Syndroom van Roussy-Lévy | Erfelijke areflexische dystasie, Roussy-Lévy-type |
| pt | Síndrome Roussy-Lévy | Distasia arrefléxica hereditária, tipo Roussy-Levy |
| pl | Zespół Roussy'ego i Lévy'ego | Dziedziczna dystazja z brakiem odruchów, typ Roussy'ego i Lévy'ego |
| cs | Roussyho-Lévyho syndrom | Dědičná areflexní dystasie, Roussyho-Lévyho typ · Roussy-Lévyho syndrom · Dědičná areflexní dystasie, Roussy-Lévyho typ |
| uk | Синдром Руссі-Леві | Спадкова арефлекторна дистазія типу Руссі-Леві |
| zh | Roussy-LÚvy 综合征 | 遗传性无反射性站立困难，Roussy-Lévy型 |
| tr | Roussy-Lévy sendromu | Kalıtsal arefleksik distazi, Roussy-Lévy tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180800 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.Y | NTBT | index | validated |
| MONDO | 0008392 | E | validated | |
| UMLS | C0205713 | E | validated | |
| GARD | 4741 | E | validated | |
| MedDRA | 10063449 | 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:140453Autosomal dominant hereditary demyelinating motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MPZ | Disease-causing germline mutation(s) in | Assessed | HGNC:7225 | ENSG00000158887 | 159440 | 1q23.3 | myelin protein zero | 10553995[PMID] |
| PMP22 | Disease-causing germline mutation(s) in | Assessed | HGNC:9118 | ENSG00000109099 | 601097 | 17p12 | peripheral myelin protein 22 | 9543325[PMID]_18592125[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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
27 annotations · validated 2021-03-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0007131 | Acute demyelinating polyneuropathy | |
| HP:0001284 | Areflexia | |
| HP:0002312 | Clumsiness | |
| HP:0003431 | Decreased motor nerve conduction velocity | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0007328 | Impaired pain sensation | |
| HP:0010829 | Impaired temperature sensition | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0002070 | Limb ataxia | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0000639 | Nystagmus | |
| HP:0001761 | Pes cavus | |
| HP:0002174 | Postural tremor | |
| HP:0002650 | Scoliosis | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0001762 | Talipes equinovarus | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002359 | Frequent falls | |
| HP:0002857 | Genu valgum | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0002839 | Urinary bladder sphincter dysfunction | |
Annotation source: 18592125[PMID]_29469679[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3115
- This record as JSON: /data/d/3115.json