Reducing Body Myopathy, X-linked 1a, Severe, With Infantile Or Early Childhood Onset; Rbmx1a

Description

Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death, and a less severe form has onset in late childhood or adulthood (RBMX1B ) (summary by Liewluck et al., 2007 and Shalaby et al., 2009).

Clinical Features

Top most frequent phenotypes and symptoms related to Reducing Body Myopathy, X-linked 1a, Severe, With Infantile Or Early Childhood Onset; Rbmx1a

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Motor delay
  • Gait disturbance
  • Respiratory insufficiency
  • Myopathy
  • Areflexia
  • Hyporeflexia

And another 15 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.

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.

Reducing Body Myopathy, X-linked 1a, Severe, With Infantile Or Early Childhood Onset; Rbmx1a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Myofibrillar Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

MYOT, TTN, LDB3, SELENON, CRYAB, DES, FHL1, FLNC, BAG3
Specificity
12 %
Genes
100 %
Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SYNE2, SYNE1, TMEM43, EMD, FHL1, LMNA
Specificity
17 %
Genes
100 %
Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Congenital Muscular Dystrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

TCAP, RXYLT1, B4GAT1, SELENON, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, POMGNT2, B3GALNT2, DNM2, DPM2, FKTN, FHL1, ISPD, ITGA7, LAMA2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Comprehensive Cardiac Panel.

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

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Neuromuscular Disorders Panel.

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

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Comprehensive Neuromuscular Panel.

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

RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Limb-Girdle Muscular Dystrophy.

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

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, VCP, CAPN3, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, COL6A1, COL6A2, COL6A3, GNE , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %

You can get up to 116 more panels with our dedicated tool

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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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