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We identified two patients with transthyretin (ATTR) amyloid myopathy (one ATTR variant amyloidosis, ATTRv; one wild-type ATTR amyloidosis, ATTRwt). Myopathy was the initial manifestation in ATTRwt, whereas it followed neuropathy and cardiomyopathy in ATTRv. The ATTRwt patient showed muscular tracer uptake on 99mTc-DPD planar scintigraphy at the time of initial diagnosis, consistent with ATTR amyloid myopathy. The ATTRv patient underwent heart transplantation because of progressive heart failure. Within the next two years, progressive myopathic symptoms and extracardiac tracer uptake on 99mTc-DPD planar scintigraphy were documented, attributable to ATTR amyloid myopathy. Interstitial amyloid deposits were confirmed by muscle biopsy in both patients, with a particularly high amyloid burden in the adipose tissue. This case report highlights the frequent concomitant presence of cardiac ATTR amyloidosis and ATTR amyloid myopathy. ATTR amyloid myopathy may precede cardiac manifestation in ATTRwt or occur after heart transplantation in ATTRv. Due to the high diagnostic accuracy of 99mTc-DPD scintigraphy for detecting ATTR amyloid myopathy and the emergence of novel therapeutics, it is important to increase the awareness of its presence. [ABSTRACT FROM AUTHOR]

Background: Patients can become weak in ICU from various etiologies and mechanisms. Establishing the diagnosis is invaluable for prognostic determination and specific management. We evaluated the relative contributions of clinical, laboratory, electomyographic studies (EMG), and percutaneous muscle biopsy (MB) in determining the cause of muscular weakness that developed in a series of patients while in ICU. The principal objective is to determine the concordance between results of the EMG and MB studies in patients with ICU-acquired weakness. Methods: We retrospectively reviewed hospital charts for clinical features, and results of laboratory investigations, EMG studies, and MB results in 11 consecutive patients who underwent both EMG and MB while in ICU. We excluded patients with previously diagnosed muscular weakness or neurological conditions prior to ICU admission. Results: Electomyographic studies suggested axonal neuropathy in three cases; MB confirmed this in one case, but showed myopathic features in two. EMG showed myopathic features in two cases; MB confirmed this in both cases. EMG suggested neuromyopathy in four cases, confirmed by MB in one case only. One patient, subsequently diagnosed with myasthenia gravis with decrement on repetitive nerve stimulation and positive anti-acetylcholine receptor antibodies, had non-specific findings on MB. Conclusions: EMG and MB are complementary investigations. They agreed completely in four cases but in the rest of the cases there was uncertainty as to the primary process based on the results of electrophysiological studies. In only one case was there a clear discordance between electrophysiological studies and muscle biopsy. We suggest that muscle biopsy should be performed more frequently as it establishes the diagnosis and thus the prognosis with more certainty than EMG in some patients. EMG is much more difficult in the ICU and more susceptible to confounding technical factors, but remains indispensable for the diagnosis of neuromuscular transmission defects. [ABSTRACT FROM AUTHOR]

We observed an infant with congenital cardiomyopathy, muscular weakness and hypotonia, who developed hepatosplenomegaly and died from heart failure at the age of 8 months. His condition (including electromyographic findings) resembled infantile Pompe disease but was different by echocardiography, morphology of lymphocyte inclusions, and enzymatic studies demonstrating an almost total deficiency of β-galactosidase activity towards methylumbelliferyl substrate in leucocytes, plasma and fibroblasts. His parents had about half the normal activities in leucocytes and plasma. Whilst β-galactosidase deficiency in an infantile storage disorder is characteristic of generalized (type 1) GM-gangliosidosis, this patient differed by the striking involvement of the cardiac and skeletal muscles and the lack of facial and osseous changes. This case and a similar one reported underlines the necessity to consider storage disorders apart from glycogenosis in congenital cardiomyopathy. [ABSTRACT FROM AUTHOR]

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Colchicine and statins are well known drugs that cause myopathy and neuropathy. Co-administration of certain drugs with statins may increase myotoxic effect, causing myopathy and varying degrees of rhabdomyolysis. Therefore, it is very crucial to know which statin should be used during a combination therapy including colchicine and other drugs. We present three cases with AA amyloidosis secondary to familial Mediterranean fever, who developed neuromyopathy while receiving the combination of colchicine and statin. We also briefly discussed the different metabolic pathways of statins and colchicine when used together. [ABSTRACT FROM AUTHOR]