CMS6
MCID: MYS055
MIFTS: 47
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Myasthenic Syndrome, Congenital, 6, Presynaptic (CMS6)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 6, Presynaptic:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth or early childhood favorable response to acetylcholinesterase inhibitors symptoms often improve gradually with age genetic heterogeneity (see cms1a1, ) HPO:31
myasthenic syndrome, congenital, 6, presynaptic:
Inheritance autosomal recessive inheritance heterogeneous Onset and clinical course congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Muscle diseases |
UniProtKB/Swiss-Prot :
73
Myasthenic syndrome, congenital, 6, presynaptic: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS6 affected individuals have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. CMS6 inheritance is autosomal recessive.
MalaCards based summary : Myasthenic Syndrome, Congenital, 6, Presynaptic, also known as familial infantile myasthenia, is related to congenital myasthenic syndrome with episodic apnea and fallopian tube carcinoma, and has symptoms including apnea, ophthalmoparesis and respiratory distress. An important gene associated with Myasthenic Syndrome, Congenital, 6, Presynaptic is CHAT (Choline O-Acetyltransferase), and among its related pathways/superpathways are DNA Damage and BRCA1 Pathway. Related phenotypes are ptosis and dysphagia Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has material basis in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. OMIM® : 57 Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (254210) (Updated 05-Mar-2021) |
Human phenotypes related to Myasthenic Syndrome, Congenital, 6, Presynaptic:31 (show all 18)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:254210 (Updated 05-Mar-2021)UMLS symptoms related to Myasthenic Syndrome, Congenital, 6, Presynaptic:apnea, ophthalmoparesis, respiratory distress |
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Articles related to Myasthenic Syndrome, Congenital, 6, Presynaptic:(show all 25)
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ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 6, Presynaptic:6 (show top 50) (show all 194)
UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 6, Presynaptic:73
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GEO
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Cellular components related to Myasthenic Syndrome, Congenital, 6, Presynaptic according to GeneCards Suite gene sharing:
Biological processes related to Myasthenic Syndrome, Congenital, 6, Presynaptic according to GeneCards Suite gene sharing:
Molecular functions related to Myasthenic Syndrome, Congenital, 6, Presynaptic according to GeneCards Suite gene sharing:
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