Myopathy, X-linked, With Excessive Autophagy; Meax

Description

X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).Danon disease (OMIM ), caused by mutation in the LAMP2 gene (OMIM ) on chromosome Xq24, is a distinct disorder with similar pathologic features.

Clinical Features

Top most frequent phenotypes and symptoms related to Myopathy, X-linked, With Excessive Autophagy; Meax

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • High palate
  • Feeding difficulties
  • Motor delay
  • Skeletal muscle atrophy
  • Respiratory insufficiency

And another 29 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

Myopathy, X-linked, With Excessive Autophagy; Meax Is also known as xmea.

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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Myopathy, X-linked, With Excessive Autophagy; Meax Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Myopathy, with excessive autophagy, X-linked (sequence analysis of VMA21 gene).

By CGC Genetics (Portugal).

VMA21
Specificity
100 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics (Portugal).

SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics (Portugal).

SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Congenital and Distal Myopathies Panel.

By CeGaT GmbH (Germany).

RYR1, BIN1, STIM1, SUCLA2, TWNK, TIA1, TK2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, CCDC78, CASQ1, CAV3, MICU1, PUS1, CHCHD10 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Invitae Comprehensive Neuromuscular Disorders Panel.

By Invitae (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SMN1, SMN2, SQSTM1, STIM1, TAZ, TCAP, TIA1, TNNT1, TPM2, TPM3, MYOT, TTN, VCP , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Invitae Autophagic Vacuolar Myopathy Panel.

By Invitae (United States).

VMA21, DES, LAMP2
Specificity
34 %
Genes
100 %
VMA21.

By Fulgent Genetics Fulgent Genetics (United States).

VMA21
Specificity
100 %
Genes
100 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center (United States).

RP2, RPGR, RPL10, RPS6KA3, RS1, SAT1, SH2D1A, SHOX, SLC16A2, SLC35A2, SLC6A14, SLC6A8, SLC9A6, KDM5C, SMPX, SMS, SOX3, SRY, BTK, CDKL5 , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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