Gne Myopathy

Description

GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.

Clinical Features

Top most frequent phenotypes and symptoms related to Gne Myopathy

  • Muscle weakness
  • Skeletal muscle atrophy
  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Dementia
  • Hypothyroidism
  • Facial palsy
  • Lower limb muscle weakness
  • Foot dorsiflexor weakness

And another 22 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Gne Myopathy Is also known as nonaka myopathy, ibm2, distal myopathy, nonaka type, hibm2, dmrv, distal myopathy with rimmed vacuoles, hereditary inclusion body myopathy type 2, quadriceps-sparing myopathy, inclusion body myopathy type 2.

Researches and researchers

Doctors, researchs, and experts related to Gne Myopathy extracted from public data.

Gne Myopathy Experts map



Current Researchs and researchers

  • NEWCASTLE UPON TYNE — Mr Cammish PHILLIP

    Investigator of research project

    • Institution/s:
      — Newcastle University
    • Research area/topic::

      Hereditary Inclusion Body Myopathy-Patient Monitoring Program (HIBM-PMP): A Registry and Prospective Observational Natural History Study to Assess HIBM Disease


  • NEWCASTLE UPON TYNE — Dr Oksana POGORYELOVA

    Investigator of clinical trial - Investigator of research project - Contact person of registry

    • Institution/s:
      — Newcastle University, Newcastle upon Tyne Hospitals NHS Trust
      — Newcastle University
    • Research area/topic::

      Hereditary Inclusion Body Myopathy-Patient Monitoring Program (HIBM-PMP): A Registry and Prospective Observational Natural History Study to Assess HIBM Disease



Mendelian

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Gne Myopathy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
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
50 %
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
50 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
50 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
50 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
50 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
50 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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