Hoffmann syndrome, a rare manifestation of hypothyroid myopathy in adults, is characterised by muscle weakness, stiffness and pseudohypertrophy. Here, we report the case of a middle-aged man who presented with progressive weakness in proximal muscles (in the form of difficulty in climbing stairs, rising from a seated position, combing hair and lifting objects) and leg swelling for 6 months. Physical examination revealed pseudohypertrophy of calf muscles with pronounced symmetric weakness in proximal upper and lower limbs. His levels of thyroid stimulating hormone and creatine kinase were significantly elevated. Electromyography was indicative of a myopathic disorder. MRI revealed symmetrical hyperintensity of bilateral gastrocnemius-soleus muscles. Following the initiation of thyroxine therapy, there was a marked improvement in signs and symptoms. Hypothyroidism should be considered as a potential cause in the differential diagnosis of individuals presenting with muscle weakness and hypertrophy.
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http://dx.doi.org/10.1136/bcr-2024-262110 | DOI Listing |
Vet Clin North Am Equine Pract
January 2025
SVM: Department of Medicine and Epidemiology, University of California, Davis, Tupper Hall 2108, One Shields Avenue, Davis, CA 95616, USA. Electronic address:
Muscle disease has various clinical manifestations that range from exertional and non-exertional rhabdomyolysis, fasciculations, weakness, rigidity, stiffness, gait abnormalities, poor performance, and alterations in muscle mass and tone. Neurogenic disorders and non-neurogenic disorders such as primary muscle disease can cause muscle atrophy and changes in muscle tone. Myotonic disorders can have a genetic (eg, inherited channelopathies) or acquired (eg, electrolyte derangements) origin.
View Article and Find Full Text PDFJ Neurosci
January 2025
Carney Institute for Brain Science, Brown University, Providence, RI 02912
The neuromuscular junction (NMJ) is the linchpin of nerve-evoked muscle contraction. Broadly, the function of the NMJ is to transduce nerve action potentials into muscle fiber action potentials (MFAPs). Efficient neuromuscular transmission requires both cholinergic signaling, responsible for generation of endplate potentials (EPPs), and excitation, the amplification of the EPP by postsynaptic voltage-gated sodium channels (Nav1.
View Article and Find Full Text PDFRinsho Shinkeigaku
January 2025
Department of Neurology, Sumitomo Hospital.
A 78-years-old man was treated for asthma and pansinusitis for >5 years, and mepolizumab was initiated two years previously. Two months after the cessation of mepolizumab treatment, the asthma symptoms worsened and acute progressive muscle weakness and sensory disturbance developed. On day 8 after the onset of weakness and hypoesthesia, the patient presented with complete flaccid tetraplegia and diffuse hypoesthesia of all extremities, without paresthesia or pain, and was admitted to our hospital.
View Article and Find Full Text PDFThorax
January 2025
Genome Medicine Laboratory, Institute of Biomedicine (iBiMED), Department of Medical Sciences, University of Aveiro, Aveiro, Portugal
Objective: Reduced functional capacity and muscle weakness are two major contributors to functional impairment in chronic obstructive pulmonary disease (COPD). The underlying causes of functional impairment are poorly understood and, therefore, we sought to investigate the contribution of genetic factors.
Methods: We conducted a cross-sectional analysis of sociodemographic, clinical and genetic information of people with COPD.
Neuromuscul Disord
January 2025
ERN-NMD Center for Neuromuscular Disorders of Messina - Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. Electronic address:
Late-onset Pompe disease (LOPD) includes patients from 1 year of age to adulthood. The vast heterogeneity in clinical manifestations and disease progression is not fully explained; however, a short disease duration and a young age seem to be good predictors of a better response to treatment. For this purpose, we investigated and followed up a cohort of 13 juvenile patients with LOPD from the clinical and therapeutic point of view, mainly pointing out the transition from presymptomatic to symptomatic status.
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