Distal Hereditary Motor Neuropathy Type 2

Table of contents:

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

Description

Distal spinal muscular atrophy-2 is an autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade; there is no sensory involvement (summary by Li et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of DSMA, see HMN1 (OMIM ).

Genes related to Distal Hereditary Motor Neuropathy Type 2

SIGMAR1
HSPB1
HSPB8
RAX2
FBXO38
HSPB3

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Clinical Features

Top most frequent phenotypes and symptoms related to Distal Hereditary Motor Neuropathy Type 2

Muscle weakness
Peripheral neuropathy
Skeletal muscle atrophy
Hyporeflexia
Babinski sign
Pes cavus
Distal muscle weakness
Distal amyotrophy
Sensory impairment
Split hand

And another 4 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

Distal Hereditary Motor Neuropathy Type 2 Is also known as hmnj, dhmn2, distal spinal muscular atrophy type 2, neuronopathy, distal hereditary motor, jerash type, neuropathy, distal hereditary motor, jerash type, dsma2, spinal muscular atrophy, jerash type.

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.

Distal Hereditary Motor Neuropathy Type 2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Amyotrophic Lateral Sclerosis Advanced Evaluation. By Athena Diagnostics Inc (United States). SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1 Specificity 6 % Genes 17 %
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1 Specificity 7 % Genes 17 %
Amyotrophic Lateral Sclerosis. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). ATXN2, SOD1, TARDBP, UBQLN2, VAPB, VCP, VEGFA, FIG4, OPTN, SPART, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, NEFH, SIGMAR1, PFN1 , (...) View the complete list with 1 more genes Panel complete gene list ATXN2, SOD1, TARDBP, UBQLN2, VAPB, VCP, VEGFA, FIG4, OPTN, SPART, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, NEFH, SIGMAR1, PFN1, PRPH2 Specificity 5 % Genes 17 %
Amyotrophic lateral sclerosis 16 (sequence analysis of SIGMAR1 gene). By CGC Genetics (Portugal). SIGMAR1 Specificity 100 % Genes 17 %
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 23 % Genes 84 %
Amyotrophic lateral sclerosis and related disorders Comprehensive panel. By Connective Tissue Gene Tests (United States). SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, CHCHD10, FIG4, OPTN, CHMP2B, ARHGEF28, ERBB4, FUS, ALS2, SETX, ANG, HNRNPA1 , (...) View the complete list with 4 more genes Panel complete gene list SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, CHCHD10, FIG4, OPTN, CHMP2B, ARHGEF28, ERBB4, FUS, ALS2, SETX, ANG, HNRNPA1, HNRNPA2B1, MATR3, SIGMAR1, PFN1 Specificity 5 % Genes 17 %
Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel. By Connective Tissue Gene Tests (United States). SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, CHCHD10, FIG4, OPTN, CHMP2B, ARHGEF28, ERBB4, FUS, ALS2, SETX, ANG, HNRNPA1 , (...) View the complete list with 4 more genes Panel complete gene list SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, CHCHD10, FIG4, OPTN, CHMP2B, ARHGEF28, ERBB4, FUS, ALS2, SETX, ANG, HNRNPA1, HNRNPA2B1, MATR3, SIGMAR1, PFN1 Specificity 5 % Genes 17 %
Amyotrophic lateral sclerosis and related disorders NGS panel. By Connective Tissue Gene Tests (United States). SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, CHCHD10, FIG4, OPTN, CHMP2B, ARHGEF28, ERBB4, FUS, ALS2, SETX, ANG, HNRNPA1 , (...) View the complete list with 4 more genes Panel complete gene list SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, CHCHD10, FIG4, OPTN, CHMP2B, ARHGEF28, ERBB4, FUS, ALS2, SETX, ANG, HNRNPA1, HNRNPA2B1, MATR3, SIGMAR1, PFN1 Specificity 5 % Genes 17 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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