Young Adult-onset Distal Hereditary Motor Neuropathy

Table of contents:

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

Description

Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.

Genes related to Young Adult-onset Distal Hereditary Motor Neuropathy

DNAJB2

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Clinical Features

Top most frequent phenotypes and symptoms related to Young Adult-onset Distal Hereditary Motor Neuropathy

Generalized hypotonia
Muscle weakness
Peripheral neuropathy
Skeletal muscle atrophy
Gait disturbance
Areflexia
Pes cavus
Difficulty walking
Distal muscle weakness
Limb muscle weakness

And another 13 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

Young Adult-onset Distal Hereditary Motor Neuropathy Is also known as young adult-onset dhmn, autosomal recessive distal spinal muscular atrophy type 5, dsma5.

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.

Young Adult-onset Distal Hereditary Motor Neuropathy 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 %
Charcot-Marie-Tooth Syndrome. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SPTLC1, YARS, PRX, BSCL2, GDAP1, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, SBF2, LRSAM1, DCTN1, MED25, SH3TC2, DYNC1H1, DNM2, HSPB8 , (...) View the complete list with 14 more genes Panel complete gene list SPTLC1, YARS, PRX, BSCL2, GDAP1, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, SBF2, LRSAM1, DCTN1, MED25, SH3TC2, DYNC1H1, DNM2, HSPB8, EGR2, GARS, GJB1, DNAJB2, HSPB1, IGHMBP2, LMNA, MPZ, MTMR2, NDRG1, NEFL, PMP22, PRPS1, RAB7A Specificity 3 % Genes 100 %
Charcot Marie Tooth Panel. By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina). SPTLC1, TTR, PRX, GDAP1, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, SBF2, LRSAM1, MED25, SH3TC2, DYNC1H1, HSPB8, EGR2, GARS, GJB1 , (...) View the complete list with 14 more genes Panel complete gene list SPTLC1, TTR, PRX, GDAP1, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, SBF2, LRSAM1, MED25, SH3TC2, DYNC1H1, HSPB8, EGR2, GARS, GJB1, DNAJB2, HSPB1, IGHMBP2, LMNA, MARS, MPZ, MTMR2, NDRG1, NEFL, AIFM1, PDK3, PMP22, PRPS1, RAB7A Specificity 3 % 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 %
Neuropathy distal motor 5, AR (sequence analysis of DNAJB2 ene). By CGC Genetics (Portugal). DNAJB2 Specificity 100 % Genes 100 %
Spinal muscular atrophy (NGS panel for 21 genes). By CGC Genetics (Portugal). SCO2, UBA1, VAPB, VRK1, SLC5A7, CHCHD10, BSCL2, EXOSC8, BICD2, TRPV4, REEP1, DCTN1, FBXO38, PLEKHG5, DYNC1H1, HSPB8, GARS, DNAJB2, IGHMBP2, ASAH1 , (...) View the complete list with 1 more genes Panel complete gene list SCO2, UBA1, VAPB, VRK1, SLC5A7, CHCHD10, BSCL2, EXOSC8, BICD2, TRPV4, REEP1, DCTN1, FBXO38, PLEKHG5, DYNC1H1, HSPB8, GARS, DNAJB2, IGHMBP2, ASAH1, ATP7A Specificity 5 % Genes 100 %
Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SYT2, SLC5A7, BSCL2, BICD2, TRPV4, AARS, LAS1L, REEP1, DCTN1, FBXO38, DYNC1H1, HSPB8, GAN, GARS, SETX, HINT1, DNAJB2, HSPB1, HSPB3, IGHMBP2 , (...) View the complete list with 2 more genes Panel complete gene list SYT2, SLC5A7, BSCL2, BICD2, TRPV4, AARS, LAS1L, REEP1, DCTN1, FBXO38, DYNC1H1, HSPB8, GAN, GARS, SETX, HINT1, DNAJB2, HSPB1, HSPB3, IGHMBP2, SIGMAR1, ATP7A Specificity 5 % Genes 100 %

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Sources and references

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ORPHANET OMIM Rare Disease Search Engine

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