Native American Myopathy

Table of contents:

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

Description

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

Genes related to Native American Myopathy

STAC3

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Native American Myopathy

Intellectual disability
Short stature
Generalized hypotonia
Hearing impairment
Microcephaly
Scoliosis
Growth delay
Micrognathia
Muscle weakness
Cleft palate

And another 45 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.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Alternative names

Native American Myopathy Is also known as nam, myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia, native american myopathy, congenital myopathy-cleft palate-malignant hyperthermia syndrome.

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.

Native American Myopathy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, SELENON, LIMS2, TRIM32, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, FKRP, FKBP14, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, POMT2, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, ALG2, GNE, CRYAB, CHST14, SIL1, TRAPPC11, ORAI1, POMK, DOK7, DAG1, ANO5, DES, ALG14, STAC3, TMEM43, B3GALNT2, DMD, MEGF10, DNM2, DPAGT1, DPM1, DPM2, DPM3, PREPL, KLHL40, DYSF, AGRN, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GBE1, GFPT1, HNRNPDL, HRAS, ITGA7, LAMA2, LAMB2, LAMP2, LARGE1, LMNA, LMOD3, LRP4, MTM1, MUSK, MYF6, MYH2, MYH7, MYL2, NEB, PLEC, BAG3, HACD1, PYGM, RAPSN Specificity 1 % Genes 100 %
Congenital Myopathy Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40 , (...) View the complete list with 8 more genes Panel complete gene list RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40, KBTBD13, HRAS, LMOD3, MTM1, MYF6, MYH7, NEB, HACD1 Specificity 4 % Genes 100 %
Congenital Myopathy Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40 , (...) View the complete list with 8 more genes Panel complete gene list RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40, KBTBD13, HRAS, LMOD3, MTM1, MYF6, MYH7, NEB, HACD1 Specificity 4 % Genes 100 %
Congenital Myopathy (Native American Myopathy) via STAC3 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). STAC3 Specificity 100 % Genes 100 %
Congenital Myopathy Sequencing Panel. By PreventionGenetics PreventionGenetics (United States). RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, MICU1, SELENON, KLHL41, BICD2, MYO18B, KLHL9, CFL2, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3 , (...) View the complete list with 10 more genes Panel complete gene list RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, MICU1, SELENON, KLHL41, BICD2, MYO18B, KLHL9, CFL2, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, STAC3, MEGF10, DNM2, KLHL40, KBTBD13, LMNA, LMOD3, MTM1, MYH7, NEB Specificity 4 % Genes 100 %
Malignant Hyperthermia Susceptibility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RYR1, CACNA1S, STAC3 Specificity 34 % 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 Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, SQSTM1, STIM1, SYT2, TCAP, TIA1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1, CACNA1S, CCDC78, CAPN3, DNAJB6, CAV3, MICU1, B4GAT1, LDB3, SELENON, LIMS2, TRIM32, KLHL41, SYNE1, TNPO3, BICD2, FKRP, MYO18B, KLHL9, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, ALG2, GNE, CRYAB, SIL1, TRAPPC11, POMGNT2, POMK, DOK7, ANO5, DES, ALG14, STAC3, TMEM43, B3GALNT2, SMCHD1, DMD, TOR1AIP1, MEGF10, DNM2, ISCU, DPAGT1, DPM1, DPM2, DPM3, PREPL, KLHL40, PNPLA2, DYSF, ECEL1, AGL, AGRN, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GBE1, GFPT1, GLE1, HNRNPA1, HNRNPA2B1, HNRNPDL, ITGA7, LAMA2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYH2, MYH3, MYH7, NEB, ATP2A1, PFKM, PLEC, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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