Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. The changing course of multiple sclerosis: rising incidence, change in geographic distribution, disease course, and prognosis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. The influence of lifestyle and gender on cluster headache

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Exercise in muscle disorders: what is our current state?

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Update on new muscle glycogenosis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Migraine and magnetic resonance spectroscopy: a systematic review

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

  1. Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Absence of p.R50X Pygm read-through in McArdle disease cellular models

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

PURPOSE OF REVIEW: The aim of the study was to describe the clinical spectrum of limb girdle muscular dystrophies (LGMDs), the pitfalls of the current classification system for LGMDs, and emerging therapies for these conditions.

RECENT FINDINGS: Close to half of all LGMD subtypes have been discovered within the last 6 years of the 21-year-period in which the current classification system for LGMD has existed. The number of letters for annotation of new recessive LGMD conditions is exhausted, and multiple already classified LGMDs do not strictly fulfill diagnostic criteria for LGMD or are registered in other classification systems for muscle disease. On the contrary, diseases that fulfill classical criteria for LGMD have found no place in the LGMD classification system. These shortcomings call for revision/creation of a new classification system for LGMD. The rapidly expanding gene sequencing capabilities have helped to speed up new LGMD discoveries, and unveiled pheno-/genotype relations. Parallel to this progress in identifying new LGMD subtypes, emerging therapies for LGMDs are under way, but no disease-specific treatment is yet available for nonexperimental use.

SUMMARY: The field of LGMD is rapidly developing from a diagnostic and therapeutic viewpoint, but a uniform and universally agreed classification system for LGMDs is needed.

OriginalsprogEngelsk
TidsskriftCurrent Opinion in Neurology
Vol/bind29
Udgave nummer5
Sider (fra-til)635-41
Antal sider7
ISSN1350-7540
DOI
StatusUdgivet - okt. 2016

ID: 49287800