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When myopathy breaks the rules: A late-onset distal presentation


Newby, R and Jamieson, S and Udd, B and Alty, J, When myopathy breaks the rules: A late-onset distal presentation, BMJ Case Reports, 2015 pp. bcr2015209436. ISSN 1757-790X (2015) [Contribution to Refereed Journal]

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DOI: doi:10.1136/bcr-2015-209436


Myopathies typically present with proximal or generalised muscle weakness, but it is important for clinicians to recognise they may also have other distributions. This paper describes a case of distal myopathy that was confirmed genetically as ZASP (Z-band alternatively spliced PDZ motif-containing protein) myofibrillar myopathy (MFM). MFMs are particularly topical because the genetic basis of several have recently been established, enabling diagnosis of conditions previously labelled 'idiopathic myopathy', and shedding new light on their pathophysiology. This paper describes a purely distal lower limb phenotype of ZASP MFM, the pathophysiology of ZASP and other MFMs, and the differential diagnosis of late-onset distal symmetrical weakness. The case includes several learning points: ZASP MFM is a new diagnosis; it should be included in differential diagnoses for late-onset myopathy, especially if there is a distal pattern or autosomal dominant inheritance; testing for cardiomyopathy is recommended, and a genetic test is now available.

Item Details

Item Type:Contribution to Refereed Journal
Keywords:case study, myopathy, late-onset distal presentation, patient, ZASP
Research Division:Biomedical and Clinical Sciences
Research Group:Neurosciences
Research Field:Peripheral nervous system
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Alty, J (Dr Jane Alty)
ID Code:133246
Year Published:2015
Deposited By:Wicking Dementia Research and Education Centre
Deposited On:2019-06-19
Last Modified:2019-07-02

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