Introduction: Severe proximal myopathy can occasionally be the first presenting complaint of patients with osteomalacia. This may lead to investigations and misdiagnosis of a neuromuscular disease, rather than a metabolic bone disease.
Case Presentations: We present here two cases of severe proximal myopathy in patients who were both of South Asian origin and lacto-vegetarians: a 31-year-old Indian man and a 34-year-old Indian woman. In both cases, their clinical symptoms fully resolved following vitamin D and calcium replacement therapy. These patients were at risk of osteomalacia due to their dietary intake and ethnicity. The role of dietary intake and sunlight exposure in the development of osteomalacia in certain ethnic groups living in Western Europe is reviewed here.
Conclusion: These two cases emphasize the importance of recognizing osteomalacia in at-risk individuals, as the condition is reversible and easily treated with vitamin D and calcium supplementation. It may also help avoid prolonged and unnecessary investigations of these patients.
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http://dx.doi.org/10.1186/1752-1947-5-178 | DOI Listing |
Neuropathol Appl Neurobiol
February 2025
Department of Neurology, Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain.
Aims: Sarcoendoplasmic reticulum Ca-ATPase 2 (SERCA2), encoded by ATP2A2, is a key protein involved in intracellular Ca homeostasis. The SERCA2a isoform is predominantly expressed in cardiomyocytes and type I myofibres. Variants in this gene are related to Darier disease, an autosomal dominant dermatologic disorder, but have never been linked to myopathy.
View Article and Find Full Text PDFJ Vasc Surg Cases Innov Tech
April 2025
Department of Cardiovascular Surgery, Houston Methodist Hospital, Houston, TX.
We describe a 54-year-old man with type 2 diabetes mellitus, ischemic myopathy, pulmonary hypertension, and end-stage renal disease who was admitted for heart failure and listed for a dual cardiac-renal transplantation. Extensive calcification in the iliac arteries prevented clamping. Proximal endovascular balloon control of the left iliac artery was achieved using contralateral access; distal control was established by passing a Fogarty catheter distally through an iliac arteriotomy, later used for anastomosis of the cadaveric conduit.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Department of Human Genetics, Emory University, Atlanta, GA, USA.
Background: Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression.
View Article and Find Full Text PDFTurk J Pediatr
December 2024
Division of Pediatric Rheumatology, Department of Pediatrics, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Türkiye.
Background: Anti-signal recognition protein (anti-SRP) myopathy is a rare idiopathic inflammatory myopathy in children. Herein, a 3-year-old patient with severe anti-SRP myopathy showing a rapidly progressive disease course is presented in order to increase the awareness of pediatricians about idiopathic inflammatory myopathies.
Case Presentation: A previously healthy 3-year-old girl presented with progressive symmetrical proximal muscle weakness that caused difficulty in climbing stairs for two months prior to evaluation, and a marked elevation of the serum creatine kinase levels.
Eur J Neurol
January 2025
Groupe Hospitalier Pitié-Salpêtrière, Institut de Myologie, AP-HP, Sorbonne Université, Paris, France.
Background: Monoclonal gammopathy (MG) has been reported in association with numerous neurological disorders but the spectrum of MG-associated myopathies remains poorly described.
Objective: To report a newly acquired myopathy associated with MG.
Methods: Three adult patients with the same phenotype from two French referral centers were prospectively analyzed.
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