Becker Muscular Dystrophy

Description

Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.

Clinical Features

Top most frequent phenotypes and symptoms related to Becker Muscular Dystrophy

  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Arrhythmia
  • Elevated serum creatine phosphokinase
  • Pes planus
  • Difficulty walking
  • Elevated hepatic transaminase
  • Myalgia
  • Muscular dystrophy

And another 23 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Becker Muscular Dystrophy have a estimated prevalence of 1.53 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Becker Muscular Dystrophy Is also known as bmd, becker dystrophinopathy.

Researches and researchers

Doctors, researchs, and experts related to Becker Muscular Dystrophy extracted from public data.

Becker Muscular Dystrophy Experts map



Current Researchs and researchers

  • MILANO — Pr Alessandra PEDROCCHI

    Investigator of research project

    • Institution/s:
      — Politecnico di Milano
    • Research area/topic::

      USEFUL: Sistema assistivo centrato sull'utente per il supporto delle funzioni del braccio in soggetti affetti da patologie neuromoscolari



Mendelian

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Becker Muscular Dystrophy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
DMD Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

DMD
Specificity
100 %
Genes
100 %
DMD Deletion/Duplication Analysis - Prenatal.

By Baylor Miraca Genetics Laboratories (United States).

DMD
Specificity
100 %
Genes
100 %
DMD Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

DMD
Specificity
100 %
Genes
100 %
DMD Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

DMD
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Basic Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

SMN1, CFTR, DMD, FMR1, HBA1, HBA2, HBB
Specificity
15 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
GeneAware ACMG/ACOG Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SMN1, SMPD1, MCOLN1, CFTR, DMD, FANCC, FMR1, GBA, HBA1, HBA2, HBB, HEXA, ELP1, ASPA
Specificity
7 %
Genes
100 %

We have 205 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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