X-linked Distal Spinal Muscular Atrophy Type 3

Description

X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.

Clinical Features

Top most frequent phenotypes and symptoms related to X-linked Distal Spinal Muscular Atrophy Type 3

  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Gait disturbance
  • Hyporeflexia
  • Pes cavus
  • Distal muscle weakness
  • Limb muscle weakness
  • Abnormality of the foot
  • Lower limb muscle weakness
  • Unsteady gait

And another 7 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

X-linked Distal Spinal Muscular Atrophy Type 3 Is also known as x-linked dhmn3, atp7a-related distal motor neuropathy, dsmax, x-linked distal hereditary motor neuropathy type 3, smax3, spinal muscular atrophy, distal, x-linked recessive, x-linked dsma3.

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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X-linked Distal Spinal Muscular Atrophy Type 3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ATP7A Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ATP7A
Specificity
100 %
Genes
100 %
ATP7A Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ATP7A
Specificity
100 %
Genes
100 %
ATP7A Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ATP7A
Specificity
100 %
Genes
100 %
ATP7A Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ATP7A
Specificity
100 %
Genes
100 %
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 %
NGS XLID Panel.

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

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
NGS Connective Tissue Disorders Panel.

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

SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Copper Transport Disorders.

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

ATP7A
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Genetic Syndrome Finder

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