1. Mendelian
  2. Rare Diseases
  3. NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A

Neuronopathy, Distal Hereditary Motor, Type Iia; Hmn2a

Table of contents:

Genes related to Neuronopathy, Distal Hereditary Motor, Type Iia; Hmn2a

  • HSPB8

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Neuronopathy, Distal Hereditary Motor, Type Iia; Hmn2a

  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Hyporeflexia
  • Respiratory failure
  • Paralysis
  • Muscle cramps
  • Spinal muscular atrophy
  • Amyotrophic lateral sclerosis
  • EMG: neuropathic changes
  • Distal lower limb muscle weakness

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

Neuronopathy, Distal Hereditary Motor, Type Iia; Hmn2a Is also known as dhmn2a, neuropathy, distal hereditary motor, type iia, hmn iia, spinal muscular atrophy, distal, adult, autosomal dominant, iia, charcot-marie-tooth disease, spinal, iia.

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.

Neuronopathy, Distal Hereditary Motor, Type Iia; Hmn2a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CMT Advanced Evaluation - Dominant.

By Athena Diagnostics Inc (United States).

YARS, LITAF, MFN2, TRPV4, DNM2, HSPB8, EGR2, GARS, HSPB1, MPZ, NEFL, PMP22, RAB7A
Specificity
8 %
Genes
100 %
CMT Advanced Evaluation - Dominant, Axonal.

By Athena Diagnostics Inc (United States).

YARS, MFN2, TRPV4, DNM2, HSPB8, GARS, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
10 %
Genes
100 %
CMT Advanced Evaluation - Comprehensive.

By Athena Diagnostics Inc (United States).

YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
CMT Advanced Evaluation - Axonal.

By Athena Diagnostics Inc (United States).

YARS, GDAP1, MFN2, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
8 %
Genes
100 %
HSPB8 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

HSPB8
Specificity
100 %
Genes
100 %
CMT Advanced Evaluation - Nonprevalent.

By Athena Diagnostics Inc (United States).

YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

UBA1, VRK1, BICD2, TRPV4, DYNC1H1, HSPB8, GARS, HSPB1, HSPB3, IGHMBP2
Specificity
10 %
Genes
100 %
CMT Advanced Evaluation - Nonprevalent Axonal.

By Athena Diagnostics Inc (United States).

YARS, GDAP1, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, NEFL, RAB7A
Specificity
10 %
Genes
100 %

You can get up to 64 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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