Is a muscle biopsy in Duchenne dystrophy really necessary?

  title={Is a muscle biopsy in Duchenne dystrophy really necessary?},
  author={Francesco Muntoni},
  pages={574 - 575}
  • F. Muntoni
  • Published 28 August 2001
  • Biology, Medicine
  • Neurology
The advances in genetics have improved considerably our abilities to diagnose genetic diseases, and these advances are influencing our diagnostic approach to neuromuscular disorders. In spinal muscular atrophy, a rapid gene test identifies 98% of affected cases and therefore a diagnostic muscle biopsy is not needed anymore. Things are more complex regarding Duchenne dystrophy (DD). The gene is very large (at least 85 exons), and genetic studies using widely available techniques can identify… 
Duchenne or Becker muscular dystrophy: a clinical, genetic and immunohistochemical study in China.
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There is a degree of direct or functional association between many of these proteins that is reflected by the presence of specific secondary abnormalities that are of value, especially when the diagnosis is not straightforward.
Continued need for caution in the diagnosis of Duchenne muscular dystrophy
It is reported that 13 out of their 102 patients previously diagnosed with sporadic DMD actually have one of the commoner forms of LGMD—LGMD type 2I—a disorder that is caused by mutations in the fukutin-related protein gene.
Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease
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Chapter 21 Dystrophinopathies
This chapter discusses X-chromosomal muscular dystrophy, similar to Duchenne's muscular Dystrophy (DMD), called “Becker's muscular dystrophin (BMD),” which is caused by defects in the same gene.
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Genetic diseases of muscle.
The next steps may be to identify and understand the relationship of modifier genes producing the phenotypic heterogeneity of many of these diseases and to characterize those and other targets for therapeutic intervention, whether by gene therapy or by pharmacological treatment.
Panchakar ma shows great improveme nt among which Virechana and B asti explained in the principle of Vata chi kits a .
Evolving natural history in Duchenne muscular dystrophy : implications for standard of care and experimental therapies
The role of different dystrophin gene (DMD) genotypes in the motor progression of the disease, and the genotype-phenotype correlations are explored, are of particular interest for clinical trials of pharmaco-gene therapies targeting specific DMD mutations.
Assessment of Genetic Mutations DMD, DYSF, EMD, LMNA, DUX4, DMPK, ZNF9, PABPN1 Genes Induction Duchenne Muscular Dystrophy
In fact, of all people with Duchenne muscular dystrophy disease, 10 patients had a genetic mutation in the genes DMD, DYSF, EMD, LMNA, DUX4, DMPK, ZNF9, PABPN1 Duchennes muscular dy Strophy disease.


Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
A highly sensitive single-strand conformation polymorphism method substantially increased detection of small dystrophin gene mutations and made it possible to diagnose approximately 90% of patients with Duchenne dystrophy by DNA analysis.
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification.
This procedure utilizes simultaneous genomic DNA amplification of multiple widely separated sequences and should permit deletion scanning at any hemizygous locus and it is demonstrated the application of this multiplex reaction for prenatal and postnatal diagnosis of DMD.
Deletions in the 5' region of dystrophin and resulting phenotypes.
A large cohort of patients with small in frame and out of frame deletions in the first 13 exons of the dystrophin gene are studied to characterise better the relationship between genotype and phenotype as a result of mutations arising in the 5' region of the gene.
Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.
The data shows that although most patients show correlation of clinical severity to molecular data, there are rare patients which do not conform, and dystrophin analysis from these patients, together with patients reported in the literature, indicate that more than one domain can localize dystophin to the sarcolemma.
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
A molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions of the same gene locus is presented and is applicable to potential 5' and 3' intron splice mutations and their effect on protein production and clinical phenotype.
Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations
The detection of a point mutation in a DMD patient and his mother, a carrier is demonstrated and the protein truncation test (PTT) could be of diagnostic value in any disease where premature terminations form a substantial part of the total mutation spectrum.
Diagnostic needle muscle biopsy. A practical and reliable alternative to open biopsy.
There seems little justification for the continued use of open biopsy for routine investigation of neuromuscular disease as needle muscle biopsy under local anaesthetic is quicker and less traumatic than open biopsies and leaves only a very small scar.
Muscle disorders in childhood.
  • V. Dubowitz
  • Medicine
    Israel journal of medical sciences
  • 1977
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