Making sense of the clinical spectrum of limb girdle muscular dystrophies
| Autor: | Satish V Khadilkar, Bhagyadhan A Patel, Jamshed A. Lalkaka |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Weakness Dysferlinopathy Limb girdle Young Adult 03 medical and health sciences 0302 clinical medicine Physical medicine and rehabilitation medicine Respiratory muscle Humans Age of Onset Child Muscle Skeletal Creatine Kinase Muscle contracture Muscle Weakness Muscle biopsy medicine.diagnostic_test business.industry General Medicine medicine.disease Electrophysiology 030104 developmental biology Sarcoglycanopathy Muscular Dystrophies Limb-Girdle Neurology (clinical) Differential diagnosis medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Practical Neurology. 18:201-210 |
| ISSN: | 1474-7766 1474-7758 |
| DOI: | 10.1136/practneurol-2017-001799 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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