Abstract |
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.
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Authors | Rachel Newby, Stuart Jamieson, Bjarne Udd, Jane Alty |
Journal | BMJ case reports
(BMJ Case Rep)
Vol. 2015
(Apr 24 2015)
ISSN: 1757-790X [Electronic] England |
PMID | 25911362
(Publication Type: Case Reports, Journal Article)
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Copyright | 2015 BMJ Publishing Group Ltd. |
Chemical References |
- Adaptor Proteins, Signal Transducing
- Carrier Proteins
- LDB3 protein, human
- LIM Domain Proteins
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Topics |
- Adaptor Proteins, Signal Transducing
(genetics, metabolism)
- Aged
- Carrier Proteins
(genetics)
- DNA Mutational Analysis
- Distal Myopathies
(genetics, physiopathology)
- Foot Orthoses
- Humans
- Immunohistochemistry
- LIM Domain Proteins
(genetics)
- Male
- Muscle Weakness
(etiology, genetics, physiopathology)
- Muscle, Skeletal
(pathology)
- Mutation, Missense
- Phenotype
- Physical Therapy Modalities
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