| Sub-title | |
| Authors | E Said A Galea Debono A Cuschieri |
| Abstract | Molecular diagnostic testing is available for facio-scapulo-humeral dystrophy (FSHD), Beckers Muscular Dystrophy and some of the Limb Girdle Muscular Dystrophies. Indications for testing are based on the clinical picture, family history, EMG confirmation of a myopathy and muscle biopsy findings indicative of dystrophic or myopathic changes. The clinical and immunohistochemical findings in these conditions frequently overlap giving rise to difficulties in diagnosis. Out of 51 patients with a clinical picture of FSHD that were tested, 29 had a gene rearrangement at 4q35, with a Bln resistant fragment measuring less than 48kb. There was marked variability in the clinical features and muscle histology of FSHD and their correlation with the DNA results. The other 12 did not have a gene rearrangement at 4q35, and in 10 cases the results were doubtful. 7 of the latter cases had a family history of myopathy. Molecular testing for Beckers Muscular Dystrophy in 7 patients only confirmed the diagnosis in 2 patients. Two of the 5 patients who tested negative were also negative for FSHD. The cases with clinical, EMG and muscle biopsy indicative of a myopathy were presumed to be limb girdle muscular dystrophy, which is a large heterogeneous group of muscle disorders. There is a battery of specialised muscle biopsy histochemical tests that can help to differentiate between some of these disorders. There was considerable difficulty in having these tests performed, and most of the results were inconclusive because of histological artefacts caused by prolonged storage of the frozen tissues. We discuss the effectiveness of DNA testing for adult-onset muscular dystrophies from our experience over the past few years. |
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| Journal | Malta Medical Journal |
| Volume | 15 Issue 1-2/suppl. 2003 |
| Pages | - |
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| Key words | facio-scapulo-humeral dystrophy (FSHD), beckers muscular dystrophy, limb girdle muscular dystrophies |