MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: MYASTHENIC SYNDROME, CONGENITAL, POSTSYNAPTIC, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
CMS1E, INCLUDED
CMS1D
CMS Ie, INCLUDED
MYASTHENIC SYNDROME, CONGENITAL, Ie, INCLUDED
MYASTHENIC SYNDROME, CONGENITAL, TYPE Id
CMS Id MYASTHENIC SYNDROME, CONGENITAL, WITH FACIAL DYSMORPHISM, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INCLUDED
Number of Symptoms 47
OrphanetNr:
OMIM Id: 608931
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:0000303) Mandibular prognathia 179 / 7739
2
(HPO:0000218) High palate 356 / 7739
3
(HPO:0000689) Dental malocclusion 114 / 7739
4
(HPO:0010628) Facial palsy 146 / 7739
5
(HPO:0000276) Long face 109 / 7739
6
(HPO:0000508) Ptosis 459 / 7739
7
(HPO:0000486) Strabismus 576 / 7739
8
(HPO:0000597) Ophthalmoparesis 71 / 7739
9
(HPO:0001270) Motor delay 322 / 7739
10
(HPO:0003473) Fatigable weakness 39 / 7739
11
(HPO:0003443) Decreased size of nerve terminals 3 / 7739
12
(HPO:0003388) Easy fatigability 34 / 7739
13
(HPO:0001260) Dysarthria 329 / 7739
14
(HPO:0002015) Dysphagia 301 / 7739
15
(HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
16
(HPO:0001558) Decreased fetal movement 74 / 7739
17
(HPO:0011968) Feeding difficulties 240 / 7739
18
(HPO:0001612) Weak cry 17 / 7739
19
(HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
20
(HPO:0002715) Abnormality of the immune system 46 / 7739
21
(HPO:0003394) Muscle cramps 106 / 7739
22
(HPO:0003403) EMG: decremental response of compound muscle action potential to repetitive nerve stimulation 7 / 7739
23
(HPO:0003199) Decreased muscle mass 27 / 7739
24
(HPO:0001252) Muscular hypotonia 990 / 7739
25
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
26
(HPO:0003554) Type 2 muscle fiber atrophy 14 / 7739
27
(HPO:0003391) Gowers sign 37 / 7739
28
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
(HPO:0003680) Nonprogressive disorder 23 / 7739
30
(OMIM) Tongue muscle weakness 1 / 7739
31
(OMIM) Muscle biopsy shows decreased numbers of acetylcholine receptors (AChR) in the postsynaptic membrane (less than 50% of normal) 1 / 7739
32
(OMIM) Muscle biopsy shows small nerve terminals 1 / 7739
33
(OMIM) Weakness may be exacerbated by illness or stress 1 / 7739
34
(OMIM) Muscle biopsy may show mild kinetic abnormalities of the AChR 1 / 7739
35
(OMIM) Decreased amplitude of miniature endplate potentials (MEPP) 1 / 7739
36
(OMIM) EMG shows decremental compound muscle action potential (CMAP) response to repetitive nerve stimulation 2 / 7739
37
(OMIM) Muscle biopsy shows decreased postsynaptic areas of clefts and folds 1 / 7739
38
(HPO:0003593) Infantile onset 249 / 7739
39
(OMIM) Muscle biopsy shows preserved junctional folds 1 / 7739
40
(OMIM) Muscle biopsy shows poor development of the postsynaptic membrane 1 / 7739
41
(OMIM) Muscle biopsy shows decreased secondary clefts 1 / 7739
42
(OMIM) Hypotonia, fixed 1 / 7739
43
(OMIM) Muscle biopsy shows increased number of endplate regions distributed over increased span of muscle fiber 1 / 7739
44
(OMIM) Arthrogryposis multiplex in severe cases 4 / 7739
45
(OMIM) Absence of acetylcholine receptor (AChR) autoantibodies 8 / 7739
46
(HPO:0003828) Variable expressivity 130 / 7739
47
(OMIM) Muscle biopsy shows type 2 fiber atrophy 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction and can be classified by the site of the transmission defect: presynaptic, synaptic, or postsynaptic. Presynaptic CMS with episodic ataxia (254210) is caused by mutation in the CHAT ...
Clinical Description OMIM Lecky et al. (1986) reported an 18-year-old girl, born of consanguineous parents, who had negligible postsynaptic alpha-bungarotoxin binding (113955), suggesting a deficiency of the acetylcholine receptor. Type 2 muscle fiber atrophy was seen in affected muscles, and endplates ...
Molecular genetics OMIM In a patient with CMS associated with AChR deficiency, Engel et al. (1996) identified compound heterozygosity for two 1-bp insertions in the CHRNE gene (100725.0013; 100725.0014). In 3 patients with CMS and AChR deficiency, Ohno et al. (1997) ...
Population genetics OMIM In 13 patients from 11 Gypsy families with CMS and AChE deficiency, Abicht et al. (1999) identified a homozygous 1-bp deletion in the CHRNE gene (1267delG; 100725.0012). Genotype analysis indicated that they derived from a common ancestor. Croxen ...