MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEMATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr:
OMIM Id: 601170
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010628) Facial palsy 146 / 7739
2
(HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
3
(HPO:0011344) Severe global developmental delay 46 / 7739
4
(HPO:0003741) Congenital muscular dystrophy 22 / 7739
5
(HPO:0003458) EMG: myopathic abnormalities 38 / 7739
6
(HPO:0003324) Generalized muscle weakness 48 / 7739
7
(HPO:0003429) CNS hypomyelination 21 / 7739
8
(OMIM) Isoelectric central evoked potentials 1 / 7739
9
(HPO:0003593) Infantile onset 249 / 7739
10
(OMIM) Variable expression of merosin (156225) 1 / 7739
11
(OMIM) Markedly decreased motor nerve conduction velocities 1 / 7739
12
(HPO:0002119) Ventriculomegaly 253 / 7739
13
(HPO:0006808) Cerebral hypomyelination 16 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(OMIM) Progressive muscle infiltration with fat cells 1 / 7739
16
(OMIM) Axial and limb muscle weakness 1 / 7739
17
(OMIM) Myopathic potentials on EMG 1 / 7739
18
(OMIM) Severe cerebral and cerebellar atrophy 1 / 7739
19
(OMIM) Almost complete absence of large diameter fibers but no signs of degeneration on sural nerve biopsy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Leyten et al. (1995) described 2 sisters with severe psychomotor retardation and generalized muscle weakness involving the face as well as the axial and limb musculature, present within the first months of life. Serial muscle biopsy showed progressive ...