Making sense of the clinical spectrum of limb girdle muscular dystrophies

Practical Neurology
Satish V KhadilkarJamshed A Lalkaka

Abstract

The expansion of the spectrum of limb girdle muscular dystrophies (LGMDs) in recent years means that neurologists need to be familiar with the clinical clues that can help with their diagnosis. The LGMDs comprise a group of genetic myopathies that manifest as chronic progressive weakness of hip and shoulder girdles. Their inheritance is either autosomal dominant (LGMD1) or autosomal recessive (LGMD2). Their prevalence varies in different regions of the world; certain ethnic groups have documented founder mutations and this knowledge can facilitate the diagnosis. The clinical approach to LGMDs uses the age at onset, genetic transmission and clinical patterns of muscular weakness. Helpful clinical features that help to differentiate the various subtypes include: predominant upper girdle weakness, disproportionate respiratory muscle involvement, distal weakness, hip adductor weakness, 'biceps lump' and 'diamond on quadriceps' sign, calf hypertrophy, contractures and cardiac involvement. Almost half of patients with LGMD have such clinical clues. Investigations such as serum creatine kinase, electrophysiology, muscle biopsy and genetic studies can complement the clinical examination. In this review, we discuss diagnostic clinical p...Continue Reading

References

Oct 8, 1998·Brain : a Journal of Neurology·M UrtasunA López de Munain
Nov 24, 1999·Journal of the Neurological Sciences·N MinamiI Nonaka
Dec 4, 2002·European Journal of Human Genetics : EJHG·Flávia de PaulaMayana Zatz
Jan 1, 1954·Brain : a Journal of Neurology·J N WALTON, F J NATTRASS
Feb 24, 2005·Neuromuscular Disorders : NMD·Marina FaninCorrado Angelini
Sep 19, 2006·Journal of Neurology, Neurosurgery, and Psychiatry·N ShahrizailaA J Wills
Oct 13, 2006·Archives of Neurology·Sunil Pradhan
Jan 23, 2008·Neurology·Sunil Pradhan
Nov 1, 2008·Neurology India·J Andoni UrtizbereaNicolas Levy
Sep 1, 2001·Journal of Clinical Neuromuscular Disease·S V Khadilkar, R K Singh
Sep 1, 2004·Journal of Clinical Neuromuscular Disease·S V KhadilkarA R Chitale
Nov 20, 2009·Practical Neurology·Kate Bushby
Dec 27, 2011·Neuromuscular Disorders : NMD·Bjarne Udd
Jan 31, 2014·Current Neurology and Neuroscience Reports·Bjarne Udd
Jul 20, 2014·Neurologic Clinics·Matthew P Wicklund, John T Kissel
Mar 25, 2016·Annals of Indian Academy of Neurology·Satish V KhadilkarJayendra G Yadav
Dec 7, 2016·Continuum : Lifelong Learning in Neurology·Stanley Jones P Iyadurai, John T Kissel
Jun 16, 2017·Annals of Indian Academy of Neurology·Satish V KhadilkarRakesh Singh
Aug 6, 2017·Practical Neurology·Jon Walters

❮ Previous
Next ❯

Citations

Oct 28, 2019·Rinshō shinkeigaku = Clinical neurology·Mai HamaguchiKoichi Hirata
Jun 7, 2020·Practical Neurology·Jon Walters, Atik Baborie
Jul 9, 2020·Molecular Therapy. Methods & Clinical Development·Andrie Koutsoulidou, Leonidas A Phylactou

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiac Electrophysiology

Cardiac electrophysiology is the study of electrical activities of the heart and includes the assessment, diagnosis, and treatment of cardiac events. Find the latest research on cardiac electrophysiology here.