Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MUSCULAR DYSTROPHY, CONGENITAL, WITH MITOCHONDRIAL STRUCTURAL ABNORMALITIES MDCMC Congenital megaconial myopathy Megaconial congénital muscular dystrophy Congenital muscular dystrophy with mitochondrial structural abnormalities |
| Number of Symptoms | 27 |
| OrphanetNr: | 280671 |
| OMIM Id: |
602541
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| ICD-10: |
G71.2 |
| 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: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital muscular dystrophy
-Rare genetic disease -Rare neurologic disease Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement -Rare genetic disease |
Symptom Information:
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(HPO:0010628) | Facial palsy | 146 / 7739 | ||||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0002465) | Poor speech | 31 / 7739 | ||||
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(HPO:0001327) | Photomyoclonic seizures | 125 / 7739 | ||||
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(HPO:0000750) | Delayed speech and language development | 197 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0002515) | Waddling gait | 56 / 7739 | ||||
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(HPO:0001270) | Motor delay | 322 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0008064) | Ichthyosis | 108 / 7739 | ||||
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(HPO:0001644) | Dilated cardiomyopathy | 50 % [HPO:skoehler] | 141 / 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:0003198) | Myopathy | 151 / 7739 | ||||
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(HPO:0001319) | Neonatal hypotonia | 101 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0003741) | Congenital muscular dystrophy | 22 / 7739 | ||||
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(OMIM) | Variation in fiber size | 8 / 7739 | ||||
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(OMIM) | Some patients never achieve independent ambulation | 1 / 7739 | ||||
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(HPO:0001427) | Mitochondrial inheritance | 12 / 7739 | ||||
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(OMIM) | Mitochondria are placed at the periphery of muscle fibers | 1 / 7739 | ||||
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(OMIM) | Muscle biopsy shows necrotic and regenerating fibers | 1 / 7739 | ||||
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(HPO:0003677) | Slow progression | 134 / 7739 | ||||
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(HPO:0003577) | Congenital onset | 133 / 7739 | ||||
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(OMIM) | Mitochondrial enlargement | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
This form of autosomal recessive congenital muscular dystrophy is characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but ... |
| Clinical Description OMIM |
Nishino et al. (1998) studied 4 patients with congenital muscular dystrophy from 3 unrelated families with the merosin-positive form; all were mentally retarded and shared the particular morphologic changes of mitochondrial depletion in muscle biopsies in addition to ... |
| Molecular genetics OMIM |
Based on the phenotype of the rostrocaudal muscular dystrophy (rmd) mouse due to a deletion in the Chkb gene (Sher et al., 2006), Mitsuhashi et al. (2011) screened the CHKB gene in 15 patients with congenital muscular dystrophy, ... |