KLHL9-related early-onset distal myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | KLHL9-related early-onset distal myopathy | |
| fr | Myopathie distale précoce associée à KLHL9 | |
| de | KLHL9-abhängige distale Myopathie mit Beginn in der Kindheit | |
| es | Miopatía distal de inicio precoz asociada al gen KLHL9 | |
| it | Miopatia distale correlata a KLHL9 ad esordio precoce | |
| nl | KLHL9-gerelateerde distale myopathie met aanvang tijdens de kindertijd | |
| pt | Miopatia distal de início precoce KLHL9-relacionada | Miopatia distal com início na adolescência relacionada com KLHL9 |
| pl | Dystalna miopatia zależna od KLHL9 o początku w dzieciństwie | |
| cs | KLHL9-vázaná distální myopatie s nástupem v dětském věku | |
| uk | Дистальна міопатія раннього початку, повязана з KLHL9 | |
| zh | KLHL9相关早发性远端肌病 | |
| tr | KLHL9-ilişkili erken-başlangıçlı distal miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0018370 | E | validated | |
| UMLS | C4706574 | 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:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KLHL9 | Disease-causing germline mutation(s) in | Assessed | HGNC:18732 | ENSG00000198642 | 611201 | 9p21.3 | kelch like family member 9 | 20554658[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 20554658[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20554658[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 2019-01-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006466 | Ankle flexion contracture | |
| HP:0002936 | Distal sensory impairment | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0009063 | Progressive distal muscle weakness | |
| HP:0009005 | Weakness of the intrinsic hand muscles | |
| Frequent (79-30%) | ||
| HP:0040081 | Abnormal circulating creatine kinase concentration | |
| HP:0001430 | Abnormality of the calf musculature | |
| HP:0006844 | Absent patellar reflexes | |
| HP:0009031 | Amyotrophy of ankle musculature | |
| HP:0001288 | Gait disturbance | |
| HP:0006937 | Impaired distal tactile sensation | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0003376 | Steppage gait | |
| Occasional (29-5%) | ||
| HP:0003438 | Absent Achilles reflex | |
| Very rare (<4-1%) | ||
| HP:0002505 | Loss of ambulation | |
| HP:0003477 | Peripheral axonal neuropathy | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20554658[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/399081
- This record as JSON: /data/d/399081.json