MYASTHENIA, LIMB-GIRDLE, AUTOIMMUNE

General Information (adopted from Orphanet):

Synonyms, Signs: MYASTHENIA GRAVIS, LIMB-GIRDLE
Number of Symptoms 14
OrphanetNr:
OMIM Id: 159400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003473) Fatigable weakness 39 / 7739
2
(HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
3
(HPO:0100522) Thymoma 5 / 7739
4
(HPO:0007126) Proximal amyotrophy 29 / 7739
5
(OMIM) Absence of ptosis 1 / 7739
6
(OMIM) Associated with autoimmune disorders (e.g., diabetes mellitus, thyroiditis, pernicious anemia, vitiligo) 2 / 7739
7
(OMIM) Muscle biopsy shows type 2 fiber atrophy 6 / 7739
8
(OMIM) EMG shows myogenic pattern with decreased motor unit potential amplitude 1 / 7739
9
(OMIM) EMG shows decremental compound motor action potential (CMAP) response to repetitive nerve stimulation 1 / 7739
10
(OMIM) Upper and lower limb involvement 1 / 7739
11
(OMIM) Absence of ophthalmoparesis 2 / 7739
12
(OMIM) Shortened duration of motor unit potentials 1 / 7739
13
(OMIM) Acetylcholine receptor (AChR) autoantibodies are found in a subset of patients 1 / 7739
14
(OMIM) Single nerve fiber EMG shows increased jitter (impaired neuromuscular transmission) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Among 314 patients with classic myasthenia gravis (MG; 254200), Oh and Kuruoglu (1992) found 12 (3.8%) who presented with chronic limb-girdle myasthenia. None of the 12 patients had oculobulbar involvement, which had initially excluded the diagnosis of myasthenia ...