Neuromyotonia And Axonal Neuropathy, Autosomal Recessive; Nman

Table of contents:

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

Description

NMAN is an autosomal recessive neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A1, {118210}) and distal hereditary motor neuropathy (see, e.g., HMN1, {182960}). Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves (summary by Zimon et al., 2012).

Genes related to Neuromyotonia And Axonal Neuropathy, Autosomal Recessive; Nman

HINT1

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Clinical Features

Top most frequent phenotypes and symptoms related to Neuromyotonia And Axonal Neuropathy, Autosomal Recessive; Nman

Peripheral neuropathy
Skeletal muscle atrophy
Gait disturbance
Hyporeflexia
Elevated serum creatine phosphokinase
Hyperhidrosis
Abnormality of the foot
Lower limb muscle weakness
Peripheral axonal neuropathy
Distal sensory impairment

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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

Neuromyotonia And Axonal Neuropathy, Autosomal Recessive; Nman Is also known as myokymia, myotonia, and muscle wasting, gamstorp-wohlfart 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.

Neuromyotonia And Axonal Neuropathy, Autosomal Recessive; Nman Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Charcot-Marie-Tooth Hereditary Neuropathy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...) View the complete list with 34 more genes Panel complete gene list SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, MORC2, INF2, LRSAM1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, HSPB8, EGR2, GAN, GARS, GJB1, HARS, HINT1, DNAJB2, HSPB1, IGHMBP2, KARS, LMNA, MARS, MME, MPZ, MTMR2, NDRG1, NEFH, NEFL, AIFM1, PDK3, PMP22, PRPS1, RAB7A Specificity 2 % 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 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...) View the complete list with 58 more genes Panel complete gene list SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4, MFN2, BICD2, TRPV4, TDP1, FGD4, AARS, GNB4, SBF2, MYH14, DHTKD1, INF2, LRSAM1, LAS1L, REEP1, RETREG1, DCTN1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, DNMT1, HSPB8, EGR2, FBLN5, GAN, GARS, GJB1, SETX, HARS, HEXA, HINT1, HK1, HOXD10, DNAJB2, HSPB1, HSPB3, IGHMBP2, ELP1, KARS, KIF5A, LMNA, MARS, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, ATP7A, AIFM1, PDK3, KIF1A, PMP22, BAG3, PRNP, PRPS1, RAB7A Specificity 2 % Genes 100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...) View the complete list with 58 more genes Panel complete gene list SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4, MFN2, BICD2, TRPV4, TDP1, FGD4, AARS, GNB4, SBF2, MYH14, DHTKD1, INF2, LRSAM1, LAS1L, REEP1, RETREG1, DCTN1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, DNMT1, HSPB8, EGR2, FBLN5, GAN, GARS, GJB1, SETX, HARS, HEXA, HINT1, HK1, HOXD10, DNAJB2, HSPB1, HSPB3, IGHMBP2, ELP1, KARS, KIF5A, LMNA, MARS, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, ATP7A, AIFM1, PDK3, KIF1A, PMP22, BAG3, PRNP, PRPS1, RAB7A Specificity 2 % Genes 100 %
Neuromyotonia and axonal neuropathy AR (sequence analysis of HINT1 gene). By CGC Genetics (Portugal). HINT1 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 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes). By CGC Genetics (Portugal). SBF1, SCN11A, SCN9A, DST, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TWNK, TFG, TTR, YARS, PRX, ARHGEF10, WNK1, BSCL2, ABHD12, GDAP1, TRIM2 , (...) View the complete list with 54 more genes Panel complete gene list SBF1, SCN11A, SCN9A, DST, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TWNK, TFG, TTR, YARS, PRX, ARHGEF10, WNK1, BSCL2, ABHD12, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, INF2, ATL3, DCAF8, CTDP1, LRSAM1, REEP1, RETREG1, C12orf65, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, DNMT1, HSPB8, TYMP, EGR2, GAN, GARS, GJB1, HINT1, HK1, HOXD10, HSPB1, IGHMBP2, ELP1, KARS, KIF5A, LMNA, MPZ, SEPT9, MTMR2, NDRG1, NEFL, NGF, NTRK1, AIFM1, PDK3, KIF1A, PHYH, PMP22, PRPS1, RAB7A Specificity 2 % Genes 100 %
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SBF1, YARS, PRX, GDAP1, TRIM2, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, INF2, CTDP1, LRSAM1, MED25, PLEKHG5 , (...) View the complete list with 24 more genes Panel complete gene list SBF1, YARS, PRX, GDAP1, TRIM2, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, INF2, CTDP1, LRSAM1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, HSPB8, EGR2, FBLN5, GARS, GJB1, HINT1, HSPB1, IGHMBP2, KARS, KIF5A, LMNA, MARS, MPZ, MTMR2, NDRG1, NEFL, AIFM1, PDK3, PMP22, PRPS1, RAB7A Specificity 3 % Genes 100 %

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Sources and references

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