Myotonia Congenita, Autosomal Recessive

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Autosomal recessive myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. Some patients show transient muscle weakness (Koch et al., 1993). Becker disease is more common and more severe than Thomsen disease.

Genes related to Myotonia Congenita, Autosomal Recessive

CLCN1

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Clinical Features

Top most frequent phenotypes and symptoms related to Myotonia Congenita, Autosomal Recessive

Muscle weakness
Pain
Flexion contracture
Fever
Dysphagia
Rigidity
Myalgia
Clumsiness
Muscle stiffness
Myotonia

And another 11 symptoms. If you need more information about this disease we can help you.

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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

Myotonia Congenita, Autosomal Recessive Is also known as becker disease, myotonia, generalized.

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.

Myotonia Congenita, Autosomal Recessive Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CLCN1 DNA Sequencing Test. By Athena Diagnostics Inc (United States). CLCN1 Specificity 100 % Genes 100 %
Early Onset Myotonia Evaluation. By Athena Diagnostics Inc (United States). SCN4A, CLCN1, DMPK Specificity 34 % Genes 100 %
Myotonic Syndrome Advanced Evaluation. By Athena Diagnostics Inc (United States). SCN4A, CNBP, CAV3, CLCN1, DMPK, HSPG2, ATP2A1 Specificity 15 % Genes 100 %
Neuromuscular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...) View the complete list with 124 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, UBA1, VCP, VRK1, ACTA1, RXYLT1, FBXL4, CACNA1S, SLC5A7, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, BSCL2, SELENON, LIMS2, MGME1, TRIM32, FIG4, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, BICD2, RRM2B, FKRP, TRPV4, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, AGK, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, GNE, CRYAB, SIL1, LAS1L, TRAPPC11, REEP1, POMGNT2, MTMR14, POMK, DOK7, DAG1, DCTN1, ANO5, DES, STAC3, TMEM43, B3GALNT2, SMCHD1, PLEKHG5, DMD, TOR1AIP1, DYNC1H1, MEGF10, DNM2, DNMT1, DPM1, DPM2, DPM3, HSPB8, KLHL40, PNPLA2, DYSF, TYMP, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GAN, GARS, GLE1, SETX, AMPD1, HINT1, HNRNPDL, HSPB1, IGHMBP2, ITGA7, LAMA2, LAMP2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYF6, MYH2, MYH7, NEB, ATP2A1, PABPN1, ATP7A, PHKA1, PLEC, PMM2, POLG, POLG2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 1 % Genes 100 %
CLCN1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). CLCN1 Specificity 100 % Genes 100 %
Myotonia congenita (deletion/duplication analysis of CLCN1 gene). By CGC Genetics (Portugal). CLCN1 Specificity 100 % Genes 100 %
Non-dystrophic myotonias (NGS panel for 11 genes). By CGC Genetics (Portugal). SCN4A, CACNA1A, CACNA1S, CAV3, CLCN1, KCNJ18, HINT1, HSPG2, KCNA1, KCNE3, ATP2A1 Specificity 10 % Genes 100 %
Myotonia congenita (sequence analysis of CLCN1 gene). By CGC Genetics (Portugal). CLCN1 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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