MME gene related symptoms and diseases

All the information presented here about the MME gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MME gene

Symptoms // Phenotype % Cases
Unsteady gait Common - Between 50% and 80% cases
Hyporeflexia Common - Between 50% and 80% cases
Peripheral axonal neuropathy Common - Between 50% and 80% cases
Distal sensory impairment Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MME gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Pain
  • Distal amyotrophy
  • Pectus carinatum
  • Cogwheel rigidity
  • Gait ataxia
  • Pes cavus
  • Hypometric saccades
  • Dysarthria

And 25 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MME gene

Here you will find a list of rare diseases related to the MME. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2


Alternate names

DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2 Is also known as charcot-marie-tooth neuropathy, type 2t, charcot-marie-tooth disease, axonal, autosomal recessive, type 2t, dnajb2-related cmt2

Description

Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

Most common symptoms of DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2

  • Ataxia
  • Cognitive impairment
  • Peripheral neuropathy
  • Gait disturbance
  • Cerebral atrophy


More info about DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2

SOURCES: OMIM ORPHANET

SPINOCEREBELLAR ATAXIA 43; SCA43


Description

Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

Most common symptoms of SPINOCEREBELLAR ATAXIA 43; SCA43

  • Ataxia
  • Nystagmus
  • Pain
  • Peripheral neuropathy
  • Dysarthria


More info about SPINOCEREBELLAR ATAXIA 43; SCA43

SOURCES: OMIM

CHARCOT-MARIE-TOOTH DISEASE TYPE 2T


Alternate names

CHARCOT-MARIE-TOOTH DISEASE TYPE 2T Is also known as ar-cmt2t, cmt2t, autosomal recessive axonal charcot-marie-tooth disease type 2t


More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2T

SOURCES: ORPHANET

MME-RELATED AUTOSOMAL DOMINANT CHARCOT MARIE TOOTH DISEASE TYPE 2


Alternate names

MME-RELATED AUTOSOMAL DOMINANT CHARCOT MARIE TOOTH DISEASE TYPE 2 Is also known as mme-related autosomal dominant hereditary motor and sensory neuropathy type 2, mme-related autosomal dominant cmt2


More info about MME-RELATED AUTOSOMAL DOMINANT CHARCOT MARIE TOOTH DISEASE TYPE 2

SOURCES: ORPHANET

SPINOCEREBELLAR ATAXIA TYPE 43


Alternate names

SPINOCEREBELLAR ATAXIA TYPE 43 Is also known as sca43

Description

Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.

Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 43

  • Pain
  • Dysarthria
  • Areflexia
  • Hyporeflexia
  • Pes cavus


More info about SPINOCEREBELLAR ATAXIA TYPE 43

SOURCES: ORPHANET


Potential gene panels for MME gene

Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Charcot-Marie-Tooth Hereditary Neuropathy Panel that also includes the following genes: SBF1 SLC12A6 SPG11 SURF1 TFG VCP YARS PRX BSCL2 GDAP1

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

MME Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MME gene.

More info about this panel

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel

Comprehensive Muscular Dystrophy / Myopathy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN

More info about this panel

Charcot-Marie-Tooth Neuropathy Panel Panel

Finland.

By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2

More info about this panel

CHARCOT-MARIE-TOOTH TYPE 2T Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the MME gene.

More info about this panel

Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes Panel

Spain.

By Reference Laboratory Genetics Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: GDAP1 KIF1B MFN2 TRPV4 AARS LRSAM1 MED25 DYNC1H1 DNM2 HSPB8

More info about this panel


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