ORPHA:565837

Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23

Synonyms: LGMD type R23 · Laminin subunit alpha 2-related LGMD R23 · Laminin subunit alpha 2-related late-onset muscular dystrophy

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Status: active

A rare autosomal recessive limb-girdle muscular dystrophy characterized by childhood to adult onset of slowly progressive limb girdle muscular weakness, often accompanied by calf hypertrophy, and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine, or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23	LGMD type R23 · Laminin subunit alpha 2-related LGMD R23 · Laminin subunit alpha 2-related late-onset muscular dystrophy
fr	Dystrophie musculaire des ceintures liée à la sous-unité alpha 2 de la laminine R23	Dystrophie musculaire des ceintures à début tardif liée à la sous-unité alpha 2 de la laminine · LGMD liée à la sous-unité alpha 2 de la laminine R23 · LGMD type R23
de	Laminin-Alpha-2-assoziierte Gliedergürtelmuskeldystrophie	Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 23 · LAMA2-assoziierte spät-einsetzende Muskeldystrophie · LGMDR23
es	Distrofia muscular de cinturas R23 asociada a la subunidad alfa 2 de la laminina	Distrofia muscular de inicio tardío asociada a la subunidad alfa 2 de la laminina
it	Distrofia muscolare dei cingoli tipo R23 correlata alla subunità alfa-2 della laminina	Distrofia muscolare ad esordio tardivo correlata alla subunità alfa-2 della laminina · LGMD R23 correlata alla subunità alfa-2 della laminina · LGMD tipo R23
nl	Laminine subeenheid alfa 2-gerelateerde limb-girdle-spierdystrofie R23	Laminine subeenheid alfa 2-gerelateerde laat aanvangende spierdystrofie
pt	Distrofia das cinturas musculares dos membros R23 sub-unidade alfa 2 da laminina-relacionada
pl	Dystrofia mięśniowa kończynowo-obręczowa związana z podjednostką alfa 2 lamininy R23	= en
cs	Končetinová svalová dystrofie R23 související s lamininovou podjednotkou alfa 2	= en
uk	Кінцівково-поясна мязова дистрофія R23, повязана з ламініновою субодиницею альфа-2	Пізня мязова дистрофія, повязана з ламініновою субодиницею альфа-2 · Субодиниця ламініну альфа-2, повязана з LGMD R23 · LGMD тип R23
zh	层粘连蛋白亚基α2相关的肢肌营养不良 R23型	肢肌营养不良R23型
tr	Laminin alt birimi alfa 2-ilişkili ekstremite kavşak tip kas distrofisi R23	Laminin alt birimi alfa 2-ilişkili LGMD R23 · Laminin alt birimi alfa 2-ilişkili geç başlangıçlı kas distrofisi · LGMD tip R23

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618138	E		validated
ICD-10	G71.0	NTBT	attributed	validated
MONDO	0029136	E		validated
UMLS	C5680122	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):

ORPHA:98006Rare neurologic disease

Parents in the classifications (2):

ORPHA:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases
ORPHA:207094Laminin subunit alpha 2-related muscular dystrophy
rare genetic diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
LAMA2	Disease-causing germline mutation(s) in	Assessed	HGNC:6482	ENSG00000196569	156225	6q22.33	laminin subunit alpha 2	21953594[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/565837
This record as JSON: /data/d/565837.json