Autosomal recessive limb-girdle muscular dystrophy type 2P
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P MDDGC9 LGMD2P |
| Number of Symptoms | 16 |
| OrphanetNr: | 280333 |
| OMIM Id: |
613818
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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 Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature -Rare genetic disease -Rare neurologic disease Primary qualitative or quantitative defects of alpha-dystroglycan -Rare genetic disease Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0000750) | Delayed speech and language development | 197 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0006466) | Ankle contracture | 17 / 7739 | ||||
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(HPO:0002938) | Lumbar hyperlordosis | 73 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0003560) | Muscular dystrophy | 88 / 7739 | ||||
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(HPO:0003391) | Gowers sign | 37 / 7739 | ||||
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(HPO:0003325) | Limb-girdle muscle weakness | 22 / 7739 | ||||
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(OMIM) | Small head size | 1 / 7739 | ||||
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(OMIM) | Muscle pseudohypertrophy | 3 / 7739 | ||||
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(OMIM) | No structural brain anomalies | 1 / 7739 | ||||
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(OMIM) | Hypoglycosylation of alpha-dystroglycan seen on muscle biopsy | 3 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Dystrophic changes seen on muscle biopsy | 2 / 7739 | ||||
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(OMIM) | Difficulty walking and climbing stairs | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
MDDGC9 is an autosomal recessive muscular dystrophy showing onset in early childhood. It is associated with mental retardation without structural brain anomalies. It is part of a group of similar disorders resulting from defective glycosylation of DAG1, collectively ... |
| Clinical Description OMIM |
Dincer et al. (2003) reported a 16-year-old Turkish girl with autosomal recessive limb-girdle muscular dystrophy and severe mental retardation. She had delayed motor development and achieved walking at age 3 years, but showed unsteady gait and difficulties climbing ... |
| Molecular genetics OMIM |
In a Turkish woman with limb-girdle muscular dystrophy and severe cognitive impairment reported by Dincer et al. (2003), Hara et al. (2011) identified a homozygous mutation in the DAG1 gene (T192M; 128239.0001). Functional expression analysis in vitro and ... |