MYASTHENIC SYNDROME, CONGENITAL, 12

General Information (adopted from Orphanet):

Synonyms, Signs: CMSTA1
Number of Symptoms 19
OrphanetNr:
OMIM Id: 610542
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:0000467) Neck muscle weakness 29 / 7739
3
(HPO:0001488) Bilateral ptosis 42 / 7739
4
(HPO:0000508) Ptosis 459 / 7739
5
(HPO:0003473) Fatigable weakness 39 / 7739
6
(HPO:0003388) Easy fatigability 34 / 7739
7
(HPO:0001270) Motor delay 322 / 7739
8
(HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
9
(HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
10
(HPO:0003394) Muscle cramps 106 / 7739
11
(HPO:0007126) Proximal amyotrophy 29 / 7739
12
(HPO:0003391) Gowers sign 37 / 7739
13
(OMIM) Distal muscle weakness may also occur 1 / 7739
14
(OMIM) Increased jitter seen on single fiber EMG 1 / 7739
15
(OMIM) Decremental compound motor action potential (CMAP) response to repetitive nerve stimulation seen on EMG 1 / 7739
16
(OMIM) Respiratory muscle weakness may occur 1 / 7739
17
(OMIM) Absence of acetylcholine receptor (AChR) autoantibodies 8 / 7739
18
(OMIM) Absence of ophthalmoparesis 2 / 7739
19
(OMIM) Muscle biopsy shows 60-80-nm tubular aggregates arranged in hexagonal arrays in type 2 fibers 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Limb-girdle myasthenia with tubular aggregates is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals showed a favorable response ...
Clinical Description OMIM Johns et al. (1966) reported 4 sibs, 2 male and 2 female, who developed a proximal myopathy involving the pectoral and pelvic girdles. Onset was in adolescence; 10 years later, they showed a prominent myasthenic reaction and good ...
Molecular genetics OMIM In 13 unrelated families with autosomal recessive limb-girdle myasthenia with tubular aggregates, Senderek et al. (2011) identified 18 different mutations in the GFPT1 gene (see, e.g., 138292.0001-138292.0006). All mutations were in the homozygous or compound heterozygous state in ...