Myopathy adult onset

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Adult-Onset Nemaline Myopathy and Monoclonal Gammopathy

A year-old man with severe proximal muscle weakness had findings diagnostic of adult-onset nemaline myopathy. He also had a monoclonal gammopathy. This is the fifth report of adult-onset nemaline myopathy in a patient with monoclonal gammopathy, suggesting that the occurrence of these entities may be more than a chance association. Myocyte-bound immunoglobulin or light chains were not detected and immunotherapy was not effective in this patient.

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Aurelia. Age: 23.
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Myotonic Dystrophy (DM)

Myopathies typically present with proximal or generalised muscle weakness, but it is important for clinicians to recognise they may also have other distributions. 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. Distal symmetrical weakness is typically considered to be due to a neuropathy, but it is important that clinicians also recognise myopathy as a possible cause. With an ageing population, the prevalence of late-onset distal weakness will be an increasingly common neurological presentation and it is important for clinicians to be familiar with the likely causes, including distal presentations of myopathy.

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The classic form of DM1 becomes symptomatic between the second and fourth decades of life. In these patients, average lifespan is reduced. The CTG repeat size in adult onset is generally in the range of 50 to 1,