Anoctamin-5-related limb-girdle muscular dystrophy R12
Synonyms: Anoctamin-5-related LGMD R12 · Autosomal recessive limb-girdle muscular dystrophy type 2L · LGMD type 2L · LGMD2L · Limb-girdle muscular dystrophy type 2L
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Anoctamin-5-related limb-girdle muscular dystrophy R12 | Anoctamin-5-related LGMD R12 · Autosomal recessive limb-girdle muscular dystrophy type 2L · LGMD type 2L · LGMD2L · Limb-girdle muscular dystrophy type 2L |
| fr | Dystrophie musculaire des ceintures liée à l'anoctamine-5 R12 | Dystrophie musculaire des ceintures autosomique récessive type 2L · Dystrophie musculaire des ceintures type 2L · LGMD liée à l'anoctamine-5 R12 · LGMD type 2L · LGMD2L |
| de | Anoctamin-5-assoziierte Gliedergürtelmuskeldystrophie R12 | ANO5-assoziierte LGMD R12 · Gliedergürtelmuskeldystrophie Typ 2L · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2L · LGMD Typ 2L · LGMD2L |
| es | Distrofia muscular de cinturas R12 asociada a anoctamina | Distrofia muscular de cinturas autosómica recesiva tipo 2L · LGMD2L |
| it | Distrofia muscolare dei cingoli autosomica recessiva, tipo 2L | LGMD2L |
| nl | Anoctamine-5-gerelateerde limb-girdle-spierdystrofie R12 | Anoctamine-5-gerelateerde LGMD R12 · Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2L · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2L · Autosomaal recessieve limb-girdle-spierdystrofie type 2L · LGMD type 2L · LGMD2L · Limb-girdle-spierdystrofie type 2L |
| pt | Distrofia muscular das cinturas dos membros R12 anoctamina-5-relacionada | Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2L |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2L | LGMD2L |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2L | LGMD2L |
| uk | Анооктамін-5-асоційована мязова дистрофія скелетних мязів кінцівок R12 | LGMD R12, повязаний з анооктамін-5 · Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2L · LGMD тип 2L · LGMD2L · Мязова дистрофія мязів поясу кінцівок, тип 2L |
| zh | Anoctamin-5蛋白相关的肢带肌萎缩症R12型 | 常染色体隐性遗传肢带型肌营养不良2L型 |
| tr | Anoktamin-5 -ilişkili ekstremite kavşak tip kas distrofisi R12 | LGMD2L · LGMD tipi 2L · Anoktamin-5-ilişkili LGMD R12 · Ekstremite-kavşak tipi kas distrofisi tip 2L · Otozomal çekinik ekstremite-kavşak tipi kas distrofisi tip 2L |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611307 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0012652 | E | validated | |
| MeSH | C566968 | E | validated | |
| UMLS | C1969785 | 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 (2):
- ORPHA:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:207122Qualitative or quantitative defects of fukutin
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANO5 | Disease-causing germline mutation(s) in | Assessed | HGNC:27337 | ENSG00000171714 | 608662 | 11p14.3 | anoctamin 5 | 20301582[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_23670307[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
35 annotations · validated 2018-05-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0006785 | Limb-girdle muscular dystrophy | |
| HP:0003326 | Myalgia | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| Frequent (79-30%) | ||
| HP:0004303 | Abnormal muscle fiber morphology | |
| HP:0001430 | Abnormality of the calf musculature | |
| HP:0003482 | EMG: axonal abnormality | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003730 | EMG: myotonic runs | |
| HP:0003445 | EMG: neuropathic changes | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0002816 | Genu recurvatum | |
| HP:0100297 | Increased endomysial connective tissue | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0031237 | Internally nucleated skeletal muscle fibers | |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0100295 | Muscle fiber atrophy | |
| HP:0003555 | Muscle fiber splitting | |
| HP:0008988 | Pelvic girdle muscle atrophy | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| HP:0009050 | Quadriceps muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0006466 | Ankle flexion contracture | |
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0001638 | Cardiomyopathy | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0010628 | Facial palsy | |
| HP:0001371 | Flexion contracture | |
| HP:0012785 | Flexion contracture of finger | |
| HP:0003089 | Hamstring contractures | |
| HP:0002913 | Myoglobinuria | |
| HP:0003691 | Scapular winging | |
| HP:0009129 | Upper limb amyotrophy | |
| HP:0001239 | Wrist flexion contracture | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 17008331[PMID]_23193613[PMID]_17008331[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/206549
- This record as JSON: /data/d/206549.json