FKRP-related limb-girdle muscular dystrophy R9
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2I · FKRP-related LGMD R9 · LGMD due to FKRP deficiency · LGMD type 2I · LGMD2I · Limb-girdle muscular dystrophy due to FKRP deficiency · Limb-girdle muscular dystrophy type 2I
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FKRP-related limb-girdle muscular dystrophy R9 | Autosomal recessive limb-girdle muscular dystrophy type 2I · FKRP-related LGMD R9 · LGMD due to FKRP deficiency · LGMD type 2I · LGMD2I · Limb-girdle muscular dystrophy due to FKRP deficiency · Limb-girdle muscular dystrophy type 2I |
| fr | Dystrophie musculaire des ceintures associée à FKRP R9 | Dystrophie musculaire des ceintures autosomique récessive type 2I · Dystrophie musculaire des ceintures par déficit en FKRP · Dystrophie musculaire des ceintures type 2I · LGMD associée à FKRP R9 · LGMD par déficit en FKRP · LGMD type 2I · LGMD2I |
| de | FKRP-assoziierte Gliedergürtelmuskeldystrophie R9 | FKRP-assoziierte LGMD R9 · Gliedergürtelmuskeldystrophie Typ 2I · Gliedergürtelmuskeldystrophie durch Fukutin-verwandtes Protein-Mangel · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2I · LGMD Typ 2I · LGMD durch FKRP-Defizienz · LGMD2I |
| es | Distrofia muscular de cinturas R9 asociada a FKRP | Distrofia muscular de cinturas autosómica recesiva tipo 2I · Distrofia muscular de cinturas por deficiencia de FKRP · LGMD2I |
| it | Distrofia muscolare dei cingoli correlata a FKRP R9 | Atrofia muscolare dei cingoli da deficit di FKRP · LGMD2I |
| nl | FKRP-gerelateerde limb-girdle-spierdystrofie R9 | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2I · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2I · Autosomaal recessieve limb-girdle-spierdystrofie type 2I · FKRP-gerelateerde LGMD R9 · LGMD door FKRP-deficiëntie · LGMD type 2I · LGMD2I · Limb-girdle-spierdystrofie door FKRP-deficiëntie · Limb-girdle-spierdystrofie type 2I |
| pt | Distrofia muscular das cinturas R9 FKRP-relacionada | Distrofia muscular das cinturas autossómica recessiva tipo 2I · Distrofia muscular das cinturas por deficiência de FKRP |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2I | Dystrofia obręczowo-kończynowa z powodu niedoboru FKRP · LGMD2I |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2I | LGMD2I · Pletencová svalová dystrofie na podkladě deficitu FKRP |
| uk | Мязова дистрофія скелетних мязів кінцівок, повязана з FKRP, R9 | Аутосомно-рецесивна мязова дистрофія мязів кінцівок, тип 2I · LGMD R9, повязаний з ФКРП · LGMD внаслідок дефіциту ФКРП · LGMD тип 2I · LGMD2I · Мязова дистрофія скелетних мязів кінцівок, спричинена дефіцитом FKRP · Мязова дистрофія мязів поясу кінцівок, тип 2I |
| zh | FKRP相关肢带肌营养不良R9型 | 常染色体隐性遗传肢带肌营养不良症2I型 |
| tr | FKRP-ilişkili ekstremite-kavşak tipi kas distrofisi R9 | LGMD2I · LGMD tip 2I · FKRP-ilişkili LGMD R9 · FKRP eksikliği nedeniyle LGMD · Ekstremite-kavşak tipi kas distrofisi tip 2I · FKRP eksikliğine bağlı ekstremite-kavşak tipi kas distrofisi · Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2I |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607155 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | index | validated |
| MONDO | 0011787 | E | validated | |
| MeSH | C564612 | E | validated | |
| UMLS | C1846672 | E | validated | |
| GARD | 12533 | 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 (4):
- ORPHA:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:309469Disorder of O-mannosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:207119Qualitative or quantitative defects of FKRP
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FKRP | Disease-causing germline mutation(s) in | Assessed | HGNC:17997 | ENSG00000181027 | 606596 | 19q13.32 | fukutin related protein | 20301582[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | 19767415[PMID]_20961759[PMID]_ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.43 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.85 / 100 000 | Norway | Value and class | Validated | 20961759[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 2018-07-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003560 | Muscular dystrophy | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0030099 | Reduced muscle fiber alpha dystroglycan | |
| Frequent (79-30%) | ||
| HP:0005109 | Abnormality of the Achilles tendon | |
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0001290 | Generalized hypotonia | |
| HP:0003749 | Pelvic girdle muscle weakness | |
| HP:0003547 | Shoulder girdle muscle weakness | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0003551 | Difficulty climbing stairs | |
| HP:0009046 | Difficulty running | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002359 | Frequent falls | |
| HP:0001270 | Motor delay | |
| HP:0030092 | Reduced muscle fiber merosin | |
| HP:0002650 | Scoliosis | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 11592034[PMID]_12666124[PMID]_14523375[PMID]_15505776[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/34515
- This record as JSON: /data/d/34515.json