ORPHA:1878
TRIM32-related limb-girdle muscular dystrophy R8
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD due to TRIM32 deficiency · LGMD type 2H · LGMD2H · Limb-girdle muscular dystrophy due to TRIM32 deficiency · Limb-girdle muscular dystrophy type 2H · Sarcotubular myopathy · TRIM32-related LGMD R8
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TRIM32-related limb-girdle muscular dystrophy R8 | Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD due to TRIM32 deficiency · LGMD type 2H · LGMD2H · Limb-girdle muscular dystrophy due to TRIM32 deficiency · Limb-girdle muscular dystrophy type 2H · Sarcotubular myopathy · TRIM32-related LGMD R8 |
| fr | Dystrophie musculaire des ceintures associée à TRIM32 R8 | Dystrophie musculaire des ceintures autosomique récessive type 2H · Dystrophie musculaire des ceintures par déficit en TRIM32 · Dystrophie musculaire des ceintures type 2H · LGMD associée à TRIM32 R8 · LGMD par déficit en TRIM32 · LGMD type 2H · LGMD2H · Myopathie sarcotubulaire |
| de | TRIM32-assoziierte Gliedergürtelmuskeldystrophie R8 | LGMD Typ 2H · LGMD durch TRIM32-Defizienz · LGMD2H · Myopathie, sarkotubuläre · TRIM32-assoziierte LGMD R8 · Gliedergürtelmuskeldystrophie Typ 2H · Gliedergürtelmuskeldystrophie durch TRIM32-Mangel · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2H |
| es | Distrofia muscular de cinturas R8 asociada a TRIM32 | Distrofia muscular de cinturas autosómica recesiva tipo 2H · Distrofia muscular de cinturas por deficiencia de TRIM32 · LGMD2H · Miopatía sarcotubular |
| it | Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2H | Distrofia muscolare dei cingoli da deficit di TRIM32 · LGMD2H · Miopatia sarcotubulare |
| nl | TRIM32-gerelateerde limb-girdle-spierdystrofie R8 | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2H · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2H · Autosomaal recessieve limb-girdle-spierdystrofie type 2H · LGMD door TRIM32-deficiëntie · LGMD type 2H · LGMD2H · Ledemaatgordel-spierdystrofie als gevolg van TRIM32-deficiëntie · Limb-girdle musculaire dystrofie type 2H · Sarcotubulaire myopathie · TRIM32-gerelateerde LGMD R8 |
| pt | Distrofia muscular das cinturas dos membros R8 TRIM32-relacionada | Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2H · Distrofia muscular das cinturas dos membros por deficiência de TRIM32 |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2H | Dystrofia obręczowo-kończynowa z powodu niedoboru TRIM32 · LGMD2H |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2H | LGMD2H · Sarkotubulární myopatie · Pletencová svalová dystrofie způsobená deficitem TRIM32 |
| uk | TRIM32-асоційована кінцівково-поясна мязова дистрофія R8 | Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2H · LGMD внаслідок дефіциту TRIM32 · LGMD тип 2H · LGMD2H · Мязова дистрофія поясу кінцівок внаслідок дефіциту TRIM32 · Мязова дистрофія поясу кінцівок, тип 2H · Саркотубулярна міопатія · LGMD R8, повязаний з TRIM32 |
| zh | TRIM32相关肢带型肌营养不良症R8型 | 常染色体隐性肢带型肌营养不良症2H型 |
| tr | TRIM32 -ilişkili ekstremite kavşak tip kas distrofisi R8 | LGMD2H · LGMD tipi 2H · Sarkotubüler miyopati · TRIM32-ilgili LGMD R8 · TRIM32 eksikliğine bağlı LGMD · Ekstremite kavşak tip kas distrofisi tip 2H · TRIM32 eksikliğine bağlı ekstremite-kavşak tip kas distrofisi · Otozomal Çekinik ekstremite-kavşak tip kas distrofisi tip 2H |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 254110 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | index | validated |
| MONDO | 0009683 | E | validated | |
| MeSH | C535897 | E | validated | |
| UMLS | C0270968 | E | validated | |
| GARD | 3844 | 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 (2):
- ORPHA:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:207107Qualitative or quantitative defects of TRIM32
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRIM32 | Disease-causing germline mutation(s) in | Assessed | HGNC:16380 | ENSG00000119401 | 602290 | 9q33.1 | tripartite motif containing 32 | 20301582[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003457 | EMG abnormality | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001288 | Gait disturbance | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0000298 | Mask-like facies | |
| HP:0003198 | Myopathy | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0002515 | Waddling gait | |
| Frequent (79-30%) | ||
| HP:0000098 | Tall stature | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1878
- This record as JSON: /data/d/1878.json