Making sense of the clinical spectrum of limb girdle muscular dystrophies.
| Autor: | Khadilkar SV; Department of Neurology, Bombay Hospital Institute of Medical Sciences, Mumbai, Maharashtra, India., Patel BA; Department of Neurology, Sterling Hospitals, Ahmedabad, Gujarat, India., Lalkaka JA; Department of Neurology, Bombay Hospital Institute of Medical Sciences, Mumbai, Maharashtra, India. |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | Practical neurology [Pract Neurol] 2018 Jun; Vol. 18 (3), pp. 201-210. Date of Electronic Publication: 2018 Feb 22. |
| DOI: | 10.1136/practneurol-2017-001799 |
| Abstrakt: | 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 pointers and comment on the differential diagnosis and relevant investigations, using illustrative case studies. Competing Interests: Competing interests: None declared. (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|