Myasthenic syndrome, congenital, 12

Preferred Label : Myasthenic syndrome, congenital, 12;

Symbol : CMS12;

CISMeF acronym : CMSTA1; CMS12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myasthenic syndrome, congenital, with tubular aggregates 1; CMSTA1;

Description : 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 to acetylcholinesterase (AChE) inhibitors (summary by Senderek et al., 2011). For a discussion of genetic heterogeneity of congenital myasthenic syndromes, see 608931. See also CMSTA2 (614750), caused by mutation in the DPAGT1 gene (191350) on chromosome 11q23.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutamine:fructose-6-phosphate aminotransferase 1 gene (GFPT1, 138292.0001);

Laboratory abnormalities : Mildly increased serum creatine kinase;

Prefixed ID : #610542;

Details

Origin ID

610542;

UMLS CUI

C3552335;

Currated CISMeF NLP mapping
- Congenital Myasthenic Syndrome 12 [NCIt concept]
- congenital myasthenic syndrome 12 [DO Concept]
DO Cross reference
- congenital myasthenic syndrome 12 [DO Concept]
Genes related to phenotype
- Glutamine:fructose-6-phosphate amidotransferase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- EMG shows decremental compound motor action potential (CMAP) response to repetitive nerve stimulation [HPO term]
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation [HPO term]
- Easy fatigability [HPO term]
- Facial palsy [HPO term]
- Fatigable weakness [HPO term]
- Gowers sign [HPO term]
- Juvenile onset [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Motor delay [HPO term]
- Muscle spasm [HPO term]
- Neck muscle weakness [HPO term]
- Ophthalmoparesis [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness due to defect at the neuromuscular junction [HPO term]
- Ptosis [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Congenital myasthenic syndrome [ORDO Disease]
- Congenital myasthenic syndromes with glycosylation defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Myasthenic Syndrome 12 [NCIt concept]
- congenital myasthenic syndrome 12 [DO Concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]

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