Autosomal Recessive Charcot-marie-tooth Disease Type 2x

Description

Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016)For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Charcot-marie-tooth Disease Type 2x

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Flexion contracture
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance
  • Hypoplasia of the corpus callosum
  • Areflexia

And another 17 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

Autosomal Recessive Charcot-marie-tooth Disease Type 2x Is also known as autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation, charcot-marie-tooth disease, axonal, autosomal recessive, type 2x, charcot-marie-tooth neuropathy, type 2x, cmt2x, arcmt2x.

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.


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Autosomal Recessive Charcot-marie-tooth Disease Type 2x Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SPG11 (Spatacsin) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

SPG11
Specificity
100 %
Genes
100 %
HSP, Comprehensive Evaluation.

By Athena Diagnostics Inc (United States).

RTN2, SACS, SPG11, ATL1, SPAST, SPG7, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
HSP, Supplemental Sporadic Evaluation.

By Athena Diagnostics Inc (United States).

RTN2, SACS, SPG11, ATL1, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A, L1CAM, KIF1A , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
HSP, Complete Recessive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, SPG11, SPG7, PNPLA6, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, CYP7B1, ALS2, KIF1A
Specificity
9 %
Genes
100 %
HSP, Common Recessive Evaluation.

By Athena Diagnostics Inc (United States).

SPG11, SPG7, ZFYVE26
Specificity
34 %
Genes
100 %
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Test for Spastic Paraplegia 11.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

SPG11
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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