ISPD-related limb-girdle muscular dystrophy R20
Synonyms: Limb-girdle muscular dystrophy type 2U · Autosomal recessive limb-girdle muscular dystrophy type 2U · ISPD-related LGMD R20 · LGMD type 2U · LGMD2U
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ISPD-related limb-girdle muscular dystrophy R20 | Limb-girdle muscular dystrophy type 2U · Autosomal recessive limb-girdle muscular dystrophy type 2U · ISPD-related LGMD R20 · LGMD type 2U · LGMD2U |
| fr | Dystrophie musculaire des ceintures associée à ISPD R20 | Dystrophie musculaire des ceintures autosomique récessive type 2U · Dystrophie musculaire des ceintures type 2U · LGMD associée à ISPD R20 · LGMD type 2U · LGMD2U |
| de | ISPD-assoziierte Gliedergürtelmuskeldystrophie R20 | Gliedergürtelmuskeldystrophie Typ 2U · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2U · ISPD-assoziierte LGMD R20 · LGMD Typ 2U · LGMD2U |
| es | Distrofia muscular de cinturas R20 asociada al gen ISPD | Distrofia muscular de cinturas autosómica recesiva por deficiencia de ISPD · Distrofia muscular de cinturas autosómica recesiva tipo 2U · LGMD2U |
| it | Distrofia muscolare dei cingoli autosomica recessiva tipo 2U | Distrofia muscolare dei cingoli autosomica recessiva, tipo 2U · LGMD2U |
| nl | ISPD-gerelateerde limb-girdle-spierdystrofie R20 | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2U · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2U · Autosomaal recessieve limb-girdle-spierdystrofie type 2U · ISPD-gerelateerde LGMD R20 · LGMD type 2U · LGMD2U · Limb-girdle musculaire dystrofie type 2U |
| pt | Distrofia muscular das cinturas dos membros R20 ISPD-relacionada | Distrofia muscular das cinturas dos membros autosómica recessiva por deficiência de ISPD |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa z powodu niedoboru ISPD | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2U · LGMD2U |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2U | LGMD2U · Autozomálné recesivní pletencová svalová dystrofie způsobená deficitem ISPD |
| uk | Кінцівково-поясна мязова дистрофія R20, повязана з ISPD | Аутосомно-рецесивна мязова дистрофія мязів кінцівок, тип 2U · LGMD R20, повязаний з ISPD · LGMD тип 2U · LGMD2U · Мязова дистрофія мязів поясу кінцівок, тип 2U |
| zh | ISPD基因相关肢带型肌营养不良R20 | 常染色体隐性遗传肢带型肌营养不良2U型 |
| tr | ISPD-ilişkili ekstremite-kuşak kas distrofisi R20 | LGMD2U · LGMD tipi 2U · ISPD-ilişkili LGMD R20 · Ekstremite-kavşak tipi kas distrofisi tip 2U · Otozomal çekinik ekstremite-kavşak tipi kas distrofisi tip 2U |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616052 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | attributed | validated |
| MONDO | 0014474 | E | validated | |
| UMLS | C5190987 | 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 (5):
- 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:207113Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:352482OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CRPPA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:37276 | ENSG00000214960 | 614631 | 7p21.2 | CDP-L-ribitol pyrophosphorylase A | 23288328[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 23288328[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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
16 annotations · validated 2019-03-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030046 | Hypoglycosylation of alpha-dystroglycan | |
| HP:0003325 | Limb-girdle muscle weakness | |
| Frequent (79-30%) | ||
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0003707 | Calf muscle pseudohypertrophy | |
| HP:0030234 | Highly elevated creatine kinase | |
| HP:0000158 | Macroglossia | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| HP:0002792 | Reduced vital capacity | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0008305 | Exercise-induced myoglobinuria | |
| HP:0002505 | Loss of ambulation | |
| HP:0003326 | Myalgia | |
| HP:0003691 | Scapular winging | |
| Very rare (<4-1%) | ||
| HP:0011446 | Abnormality of higher mental function | |
| HP:0000478 | Abnormality of the eye | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 26810373[PMID]_23390185[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352479
- This record as JSON: /data/d/352479.json