Neuronopathy, Distal Hereditary Motor, Type Iid; Hmn2d

Description

Distal hereditary motor neuronopathy type IID is an autosomal dominant neurologic disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal (summary by Sumner et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Neuronopathy, Distal Hereditary Motor, Type Iid; Hmn2d

  • Pain
  • Skeletal muscle atrophy
  • Pes cavus
  • Pes planus
  • Difficulty walking
  • Proximal muscle weakness
  • Limb muscle weakness
  • Lower limb muscle weakness
  • Muscle cramps
  • Sensory impairment

And another 11 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 Iid; Hmn2d Is also known as hmn iid, spinal muscular atrophy, distal, autosomal dominant, calf-predominant, dhmn2d, neuropathy, distal hereditary motor, type iid.

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 Iid; Hmn2d Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
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
Specificity
5 %
Genes
100 %
Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SLC5A7, BSCL2, BICD2, TRPV4, DCAF8, REEP1, DCTN1, FBXO38, PLEKHG5, DYNC1H1, HSPB8, GAN, GARS, GJB1, SETX, HARS, HINT1, DNAJB2, HSPB1, HSPB3 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Distal hereditary motor neuropathy and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SLC5A7, BSCL2, BICD2, TRPV4, DCAF8, REEP1, DCTN1, FBXO38, PLEKHG5, DYNC1H1, HSPB8, GAN, GARS, GJB1, SETX, HARS, HINT1, DNAJB2, HSPB1, HSPB3 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Distal hereditary motor neuropathy and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SLC5A7, BSCL2, BICD2, TRPV4, DCAF8, REEP1, DCTN1, FBXO38, PLEKHG5, DYNC1H1, HSPB8, GAN, GARS, GJB1, SETX, HARS, HINT1, DNAJB2, HSPB1, HSPB3 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Spinal Muscular Atrophy Panel.

By CeGaT GmbH (Germany).

SCO2, UBA1, VAPB, VRK1, SLC5A7, CHCHD10, BSCL2, EXOSC8, BICD2, EXOSC3, TRPV4, AARS, LAS1L, REEP1, DCTN1, FBXO38, PLEKHG5, DYNC1H1, HSPB8, GARS , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Spinal Muscular Atrophy (SMA) Panel.

By CeGaT GmbH (Germany).

SCO2, UBA1, VAPB, VRK1, SLC5A7, CHCHD10, BSCL2, EXOSC8, BICD2, EXOSC3, TRPV4, AARS, LAS1L, REEP1, DCTN1, FBXO38, PLEKHG5, DYNC1H1, HSPB8, GARS , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %

You can get up to 6 more panels with our dedicated tool

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Sources and references

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OMIM Rare Disease Search Engine

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