Myasthenic Syndrome, Congenital, 15; Cms15
Description
Congenital myasthenic syndrome-15 is one of a heterogeneous group of disorders that arise from impaired signal transmission at the neuromuscular synapse and are characterized by fatigable muscle weakness (summary by Cossins et al., 2013).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).
Clinical Features
Phenotypes and symptoms related to Myasthenic Syndrome, Congenital, 15; Cms15
- Muscle weakness
- Ptosis
- Flexion contracture
- Difficulty walking
- Proximal muscle weakness
- Frequent falls
- Multiple joint contractures
- Fatigable weakness
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
- Increased jitter at single fibre EMG
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Myasthenic Syndrome, Congenital, 15; Cms15 Is also known as myasthenic syndrome, congenital, without tubular aggregates, cmswta.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Myasthenic Syndrome, Congenital, 15; Cms15 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Neuromuscular Disorders Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...)
View the complete list with 91 more genes
Specificity
1 %
Genes
100 % |
Congenital Myasthenic Syndrome Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
SCN4A, SNAP25, SYT2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, ALG2, DOK7, ALG14, DPAGT1, PREPL, AGRN, GFPT1, LRP4, MUSK, RAPSN
Specificity
5 %
Genes
100 % |
Congenital Myasthenic Syndrome Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
SCN4A, SNAP25, SYT2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, ALG2, DOK7, ALG14, DPAGT1, PREPL, AGRN, GFPT1, LRP4, MUSK, RAPSN
Specificity
5 %
Genes
100 % |
Comprehensive Neuromuscular Sequencing Panel.
By PreventionGenetics PreventionGenetics (United States).
RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, SQSTM1, STIM1, SYT2, TCAP, TIA1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, MYOT, TTN , (...)
View the complete list with 104 more genes
Specificity
1 %
Genes
100 % |
Congenital myasthenic syndrome ALG14-related.
By MGZ Medical Genetics Center (Germany).
ALG14
Specificity
100 %
Genes
100 % |
Neurogenetic Disorders - panels.
By MGZ Medical Genetics Center (Germany).
BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)
View the complete list with 572 more genes
Specificity
1 %
Genes
100 % |
Congenital Myasthenic Syndrome (CMS).
By MGZ Medical Genetics Center (Germany).
SNAP25, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, ALG2, DOK7, ALG14, DPAGT1, PREPL, AGRN, GFPT1, LRP4, MUSK, RAPSN
Specificity
6 %
Genes
100 % |
Newborn: “Floppy Infant “.
By MGZ Medical Genetics Center (Germany).
RYR1, BIN1, SCN4A, TCAP, TNNT1, TPM2, TPM3, TTN, UBA1, ACTA1, RXYLT1, CCDC78, B4GAT1, GDAP1, SELENON, SLC52A3, MFN2, SYNE1, BICD2, FKRP , (...)
View the complete list with 53 more genes
Specificity
2 %
Genes
100 % |
You can get up to 7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MEACHAM SYNDROME JAWAD SYNDROME; JWDS SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS; HANAC ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE NEPHRONOPHTHISIS 18; NPHP18