MYASTHENIC SYNDROME, CONGENITAL, 10

General Information (adopted from Orphanet):

Synonyms, Signs: MYASTHENIC MYOPATHY, FORMERLY
CMS1B
LGM
CONGENITAL MYASTHENIC SYNDROME TYPE Ib
CMS Ib
Number of Symptoms 22
OrphanetNr:
OMIM Id: 254300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Juvenile 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:0000544) External ophthalmoplegia 40 / 7739
3
(HPO:0000597) Ophthalmoparesis 71 / 7739
4
(HPO:0000508) Ptosis 459 / 7739
5
(HPO:0000602) Ophthalmoplegia 56 / 7739
6
(HPO:0003473) Fatigable weakness 39 / 7739
7
(HPO:0003388) Easy fatigability 34 / 7739
8
(HPO:0001558) Decreased fetal movement 74 / 7739
9
(HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
10
(HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
11
(HPO:0001283) Bulbar palsy 31 / 7739
12
(HPO:0003693) Distal amyotrophy 118 / 7739
13
(HPO:0007126) Proximal amyotrophy 29 / 7739
14
(OMIM) Decreased postsynaptic length 1 / 7739
15
(OMIM) Muscle biopsy shows degenerating endplates and junctional folds 1 / 7739
16
(OMIM) Electromyographic decrements in some muscles 1 / 7739
17
(OMIM) Decreased acetylcholine receptors (AChR) at endplate junctional folds (less common) 1 / 7739
18
(OMIM) Disorganization of the neuromuscular junction 1 / 7739
19
(OMIM) Decreased endplate potential and amplitudes 1 / 7739
20
(OMIM) Denuded postsynaptic regions 1 / 7739
21
(OMIM) Absence of acetylcholine receptor (AChR) autoantibodies 8 / 7739
22
(OMIM) Degenerating nerve terminals 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Azulay et al. (1994) reported a woman with proximal muscle weakness of the myasthenic type. Family history was not reported.

Shankar et al. (2002) reported 2 Indian sisters with classic features of limb-girdle myasthenia.

...

Molecular genetics OMIM - Mutations in the DOK7 Gene

Beeson et al. (2006) identified frameshift mutations in the DOK7 gene (610285) in 16 unrelated patients with limb-girdle type congenital myasthenic syndrome. In 3 additional patients, a frameshift mutation was ...