Autosomal recessive limb-girdle muscular dystrophy type 2K
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MDDGC1 LGMD2K MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K Limb-girdle muscular dystrophy - intellectual deficit |
| Number of Symptoms | 24 |
| OrphanetNr: | 86812 |
| OMIM Id: |
609308
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| ICD-10: |
G71.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive limb-girdle muscular dystrophy
-Rare genetic disease -Rare neurologic disease Disorder of O-mannosylglycan synthesis -Rare genetic disease Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature -Rare genetic disease -Rare neurologic disease Qualitative or quantitative defects of protein O-mannosyltransferase 1 -Rare genetic disease |
Symptom Information:
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0002355) | Difficulty walking | 61 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001270) | Motor delay | 322 / 7739 | ||||
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(HPO:0003388) | Easy fatigability | 34 / 7739 | ||||
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(HPO:0002938) | Lumbar hyperlordosis | 73 / 7739 | ||||
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(HPO:0001371) | Flexion contracture | 220 / 7739 | ||||
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(HPO:0003306) | Spinal rigidity | 30 / 7739 | ||||
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(HPO:0001638) | Cardiomyopathy | rare [HPO:skoehler] | 192 / 7739 | |||
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(HPO:0001637) | Abnormality of the myocardium | 76 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0003325) | Limb-girdle muscle weakness | 22 / 7739 | ||||
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(HPO:0003560) | Muscular dystrophy | 88 / 7739 | ||||
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(HPO:0003551) | Difficulty climbing stairs | 23 / 7739 | ||||
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(OMIM) | Muscle pseudohypertrophy | 3 / 7739 | ||||
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(OMIM) | Mental retardation, mild to moderate | 33 / 7739 | ||||
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(OMIM) | Joint contractures, mild | 3 / 7739 | ||||
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
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(OMIM) | No structural brain abnormalities seen on MRI | 1 / 7739 | ||||
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(OMIM) | Difficulty walking, running, climbing stairs | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Decreased glycosylation of alpha-dystroglycan | 6 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(HPO:0003677) | Slow progression | 134 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128230) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ... |
| Clinical Description OMIM |
Dincer et al. (2003) reported 7 patients from 6 consanguineous Turkish families with autosomal recessive mental retardation and limb-girdle muscular dystrophy. An eighth British patient, who was not from a consanguineous family, had a similar phenotype. All patients ... |
| Molecular genetics OMIM |
In 5 Turkish patients, born of consanguineous parents, with limb-girdle muscular dystrophy and mental retardation, some of whom were described by Dincer et al. (2003), Balci et al. (2005) identified a homozygous mutation in the POMT1 gene (A200P; ... |