hypothyroid myopathy

BACKGROUND: There is a lack of regional and local evidence that describes the nature of cystinosis, a multiorgan accumulation of cystine, and its extent of organ damage. Therefore, this study aimed to determine the outcomes of cystinosis in patients who were followed up at a large tertiary care hospital. METHODS: Medical records of patients with cystinosis were retrospectively reviewed. Patients' baseline demographics, lab values, medications, comorbidities, and complications were collected and described...

The liver and thyroid hormones interact at multiple levels to maintain homoeostasis. The liver requires large adequate amounts of thyroid hormones to execute its metabolic functions optimally, and deficiency of thyroid hormones may lead to liver dysfunction. Hypothyroidism has been associated with abnormal lipid metabolism, non-alcoholic fatty liver disease (NAFLD), hypothyroidism-induced myopathy, hypothyroidism-associated gallstones and occasionally, interferon-induced thyroid dysfunction. NAFLD remain an important association with hypothyroidism and further studies are needed that specifically compare the natural course of NAFLD secondary to hypothyroidism and primary NAFLD...

The rare disorder known as Neutral Lipid Storage Disease with Myopathy presents with a variety of clinical manifestations, including myopathy, cardiac dysfunction, and other organ complications. Early diagnosis is crucial due to the increased risk of cardiomyopathy. We describe the clinical, histopathological, muscle imaging, and genetic findings of nine neutral lipid storage myopathy patients. Proximal weakness and asymmetric involvement may suggest lipid storage myopathy. While skeletal muscle weakness was the main manifestation in our patients, one case presented only with hyperCKemia...

Hypothyroidism constitutes a prevalent pathology, with up to 80% of afflicted individuals displaying associated muscular symptoms. However, these symptoms rarely appear as the first or only manifestation of hypothyroidism. We report the case of a previously healthy 21-year-old man, diagnosed with hypothyroid myopathy after experiencing intense myalgias and cramps, which were relieved by oral administration of levothyroxine. This case demonstrates the significance of considering thyroid-related conditions when patients present muscular symptoms as these can represent the only or initial indicator of hypothyroidism...

Hypothyroidism is an endocrine disorder which occurs due to a deficiency of thyroid hormones. Hoffmann's syndrome is a rare complication of hypothyroidism - presenting as hypothyroid myopathy. We describe the case of a 20-year-old lactating female patient, with known case of hypothyroidism (diagnosed during her pregnancy and having discontinued treatment following delivery), presenting with complaints of pain, swelling of bilateral calf muscles with cramps in bilateral lower limbs for 1 day. Symptoms of muscle pseudohypertrophy with muscle stiffness are relatively rare in subclinical hypothyroidism and hence, it is important to identify and diagnose this rare condition, and to initiate appropriate treatment...

Inflammatory myositis (IM) presents a diagnostic challenge due to its multifaceted etiology and varying clinical presentations. This case involves a 55-year-old male with asymptomatic hypothyroidism, recent statin use, and rapidly progressing proximal muscle weakness. He presented with profound weakness in the upper and lower extremities, severely impairing his daily activities. The patient's medical history included recent hospitalizations for idiopathic interstitial lung disease, myopericarditis, and pneumonia, adding complexity to his condition...

BACKGROUND: Hoffmann's syndrome is a rare form of hypothyroid myopathy in adults, which is mainly characterized by muscular weakness and muscular pseudohypertrophy. CASE PRESENTATION: We report about a 61-year-old Western European man with myalgia, myxedema and pseudohypertrophy of the calf muscles. Laboratory tests revealed significantly elevated thyroid stimulating hormone (TSH) and creatine kinase (CK). Muscle MRI showed muscular hypertrophy of the lower limbs, but no signs of myositis or myopathy (no gadolinium enhancement, no edema, no fatty degeneration)...

A man in his 20s presented with a 6-year history of calf muscle hypertrophy, proximal muscle weakness and muscle cramps. Along with this, he also had patchy hair loss, facial puffiness and slurring of speech. On examination, he had mild symmetrical proximal muscle weakness, a delayed relaxation phase of his deep tendon reflexes and a rare neurological sign of myoedema. His laboratory investigations revealed elevated thyroid-stimulating hormone levels with high creatine kinase levels, and an echocardiogram showed left ventricular systolic dysfunction...

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Sarcoidosis is an immune-mediated disease that can involve multiple systems. Sarcoidosis of the nervous system or neurosarcoidosis may present as cranial mononeuropathy, hypothalamic involvement, aseptic meningitis, granulomatous inflammation in the brain parenchyma or spinal cord, peripheral neuropathy, and, in rare cases, as myopathy and benign intracranial hypertension. The most common cranial nerve involvement is the facial nerve, which can present as unilateral or bilateral facial nerve palsy, often with recurrent episodes...

BACKGROUND: Thyroid hormone synthesis is a complex process in the human body. Although the thyroid gland is essential for thyroid hormone synthesis, skeletal muscles also have crucial roles in thyroid hormone metabolism due to the deiodinase activities of the muscle cells. Hypothyroidism-related myopathy is a well-known entity. However, systemic effects of acute myopathies, such as rhabdomyolysis, on thyroid hormone metabolism have not to date been fully clarified. METHODS: Fifty-three earthquake victims were evaluated retrospectively...

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset myopathic genetic disorder characterized by chronic progressive dysphagia and ptosis with or without proximal limb weakness. It is most often caused by an abnormal alanine-encoding (GCN) trinucleotide repeat expansion in the first exon of the poly(A)-binding protein nuclear 1 ( PABPN1) gene. Patients with hypothyroidism may similarly report bilateral ptosis, dysphagia, and limb weakness. Here, we report the case of a 65-year-old Austrian female with hypothyroidism living in the Philippines who presented with gradually progressive ptosis, dysphagia, and intermittent choking episodes...

KEY CLINICAL MESSAGE: Myopathy-related symptoms are rare manifestations of hypothyroidism. Clinicians should consider hypothyroid myopathy as one of the possible diagnoses for patients with proximal weaknesses. ABSTRACT: Myopathy-related symptoms are rare manifestations of hypothyroidism. Clinicians should consider hypothyroid myopathy as one of the possible diagnoses for patients with proximal weaknesses. We report a 34-year-old woman, presenting with a new atypical musculoskeletal manifestation of hypothyroidism mimicking polymyositis...

TANGO2-related disease is an autosomal recessive multisystem disease associated with developmental delay and infancy-onset recurrent metabolic crises with early mortality. Several studies have reported dysfunction in endoplasmic reticulum-to-Golgi traffic and mitochondrial homoeostasis as the underlying pathophysiology. We report a 40-year-old woman affected by limb-girdle weakness and mild intellectual disability caused by the recurrent deletion of exons 3-9 in homozygosity in the TANGO2 gene. Physical examination revealed hyperlordosis, waddling gait, calf pseudohypertrophy, and Aquilian tendon retractions...

INTRODUCTION: To our knowledge this is the first & only case report in India wherein malignant ileal gastrointestinal-stromal-tumor presented with paraneoplastic-myositis & hypothyroidism. RESULT: Herein August-2019 IPGMER-SSKM-kolkata 49-year-male laborer presented with 15-days acute onset gradually progressing symmetrical poly-arthralgia (bilateral shoulders & knee) and 10-days acute progressive symmetrical proximal myopathy along-with painfully swollen bilateral thighs and arms (restricted range of motion) besides fatigue for similar duration...

BACKGROUND: Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare metabolic disorder affecting fatty acid oxidation. Incidence at birth is estimated at 1:250 000, but type III presents in adults. It is characterized by nonspecific symptoms but if undiagnosed may cause ketoacidosis and rhabdomyolysis. A review of 350 patients found less than one third presented with metabolic crises. Our objective is to describe an adult with weakness after carbohydrate restriction that developed a pulmonary embolism and ketoacidosis, and was diagnosed with MADD type III...

INTRODUCTION/AIMS: Hypernatremia myopathy is a rare disease often unrecognized by clinicians. This study aimed to present a case series of hypernatremic myopathy with an emphasis on profiling its clinical characteristics and exploring its pathogenesis. METHODS: We reviewed seven patients with hypernatremic myopathy and reported their demographic data, etiology, clinical manifestations, and laboratory and electrophysiological characteristics. A muscle biopsy was performed on one patient...

The first-line therapy in advanced kidney cancer has changed in recent years due to the introduction of combinations of tyrosine kinase inhibitors (TKIs) of vascular endothelial growth factor receptors (VEGFR) and immune checkpoint inhibitors (ICIs). Although immune-related adverse events are well-known, in the case of combination treatments, the determination of which drug is related to an adverse event may be challenging. We reported two cases of patients who developed muscle enzyme elevation in association with hypothyroidism during therapy with pembrolizumab plus axitinib for metastatic kidney cancer...

BACKGROUND: Hypothyroidism is a commonly encountered endocrine disorder presenting in various clinical settings. It usually presents with classic manifestations, which are readily recognized and, therefore, easy to diagnose. However, occasionally, patients present with unusual symptoms, which becomes a challenge to diagnose. Thyroid dysfunction affects many body organs, including the gut and viscera. Studies show that intestinal motility might be affected by multiple factors, such as neuromuscular dysfunction, myopathy, or alterations in hormone receptors...

Statin treatment for hypercholesterolemia may cause reversible rhabdomyolysis and acute kidney injury in susceptible patients. However, persistent rhabdomyolysis and acute kidney injury following discontinuation of statins require careful evaluation of the underlying causes to avoid missing a curable disease. We describe a 50-year-old woman with hypercholesterolemia [total cholesterol 345 mg/dl, low-density lipoprotein cholesterol (LDL-C) 266 mg/dL] on atorvastatin therapy (40 mg daily) for 1 month that presented with myalgia and muscle weakness...