scholarly journals Severe proximal myopathy secondary to Hashimoto’s thyroiditis

2019 ◽  
Vol 12 (7) ◽  
pp. e230427
Author(s):  
William Jervis ◽  
Najeeb Shah ◽  
Shiva Kumar Mongolu ◽  
Thozhukat Sathyapalan
Keyword(s):  
Creatine Kinase ◽  
Differential Diagnosis ◽  
Muscle Weakness ◽  
Creatine Kinase Level ◽  
Complete Resolution ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Rare Differential Diagnosis ◽  
Thyroxine Replacement ◽  
Proximal Myopathy

Muscular symptoms in hypothyroidism are common, including myalgia, fatigue and cramps; however, a significantly raised creatine kinase and muscle weakness are rare. Differential diagnosis of patients presenting with muscle weakness and a raised creatine kinase is wide, and hypothyroidism is rarely considered. We report this case of a 30-year-old female presenting with proximal muscle weakness as her primary symptom, hypothyroid symptoms of 3-month duration and a significantly raised creatine kinase. After ruling out other causes of a raised creatine kinase, thyroxine replacement was commenced, which led to complete resolution of her proximal weakness, myalgia and normalisation of creatine kinase level. This case illustrates severe proximal myopathy can be secondary to hypothyroidism, symptoms can resolve with thyroxine replacement and emphasises the importance of measuring thyroid function in patients with proximal weakness/myalgia and a significantly raised creatine kinase.

scholarly journals Statin-induced necrotising autoimmune myopathy and autoimmune hepatitis presenting with dysphagia

2020 ◽  
Vol 13 (2) ◽  
pp. e232391 ◽  
Author(s):  
Osama Qasim Agha ◽  
Sukhdeep Kaur ◽  
Nirmal Vijayavel
Keyword(s):  
Creatine Kinase ◽  
Autoimmune Hepatitis ◽  
Complete Resolution ◽  
Oropharyngeal Dysphagia ◽  
Liver Function Tests ◽  
Unknown Aetiology ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Autoimmune Myopathy ◽  
Smooth Muscle Antibodies

Statin-induced necrotising autoimmune myopathy (SINAM) is a rare disease characterised by proximal muscle weakness and elevated creatine kinase levels that is usually in the thousands. Anti-3-hydroxy-3-methyl glutaryl co-enzyme A reductase (HMGCR) antibodies are associated with SINAM. Autoimmune hepatitis (AIH) is an inflammatory disease of the liver that is usually of unknown aetiology but can also be associated with concurrent extrahepatic autoimmune disorders. We are reporting a case of biopsy proven AIH associated with SINAM in a patient presenting with oropharyngeal dysphagia. The patient had elevated anti-HMGCR antibodies and anti-smooth muscle antibodies. SINAM and AIH were confirmed by muscle biopsy and liver biopsy, respectively. The patient had complete resolution of his symptoms and complete normalisation of his liver function tests after 6 months of the treatment.

Isolated proximal weakness of the legs due to neuroborreliosis

2021 ◽  
Vol 14 (11) ◽  
pp. e244431
Author(s):  
Simone Nibourg ◽  
Martijn Beudel ◽  
Jeroen Trip
Keyword(s):  
Differential Diagnosis ◽  
Muscle Weakness ◽  
Neuromuscular Disorders ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Diagnostic Challenge ◽  
Intravenous Antibiotics ◽  
Treatable Condition

Proximal muscle weakness of the legs is a symptom with a broad differential diagnosis. It is mainly caused by neuromuscular disorders and is often a diagnostic challenge. Here, we present a 73-year-old man with isolated proximal weakness of the legs due to lumbar root involvement on the basis of neuroborreliosis. After treatment with intravenous antibiotics he recovered completely. This is the first described case with isolated proximal muscle weakness of the legs due to neuroborreliosis. Despite the fact neuroborreliosis is a rare cause of proximal muscle weakness of the legs, clinicians should include it in their differential diagnosis, especially since it is a treatable condition.

scholarly journals Statin and fibrate associed myopathy: study of eight patients

2004 ◽  
Vol 62 (2a) ◽  
pp. 257-261 ◽  
Author(s):  
Alzira A. Siqueira Carvalho ◽  
Ürsula Waleska Poti Lima ◽  
Raul Alberto Valiente
Keyword(s):  
Creatine Kinase ◽  
Muscle Weakness ◽  
Muscle Biopsy ◽  
Clinical Course ◽  
Lipid Lowering ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Inflammatory Infiltration ◽  
Lipid Lowering Drugs ◽  
Ragged Red Fibers

Lipid-lowering drugs have been occasionally associated with neuromuscular symptoms and muscle biopsy changes. We reported the clinical course and the muscle biopsy in eight patients with hyperlipoproteinemia, treated with lipid -lowering drugs (statins/fibrates). Five patients had myalgias while; in two cases there was proximal muscle weakness. All patients became asymptomatic after the withdrawal of the drug, although creatine kinase remained elevated. We performed muscle biopsy in six cases from three months to two years after suspension of the drug. We found variation in fibers diameters in all cases, with necrosis of fibers in five cases, inflammatory infiltration in one case, the presence of vacuolated fiber in one patient and ragged-red fibers in three subjects. We concluded that although the muscle biopsy findings were not specific, the prolonged use of statins and or fibrates might induce a chronic myopathy even in the absence of symptoms.

scholarly journals Statin-associated anti-HMGCR immune-mediated necrotizing myopathy with dermatomyositis-like features: A case report

2020 ◽  
Vol 8 ◽  
pp. 2050313X2098412
Author(s):  
Darosa Lim ◽  
Océane Landon-Cardinal ◽  
Benjamin Ellezam ◽  
Annie Belisle ◽  
Annie Genois ◽  
...  
Keyword(s):  
Creatine Kinase ◽  
Muscle Weakness ◽  
Inflammatory Myopathy ◽  
Idiopathic Inflammatory Myopathy ◽  
Intravenous Immunoglobulins ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Therapeutic Implications ◽  
Necrotizing Myopathy ◽  
Immune Mediated

Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) immune-mediated necrotizing myopathy is a subtype of idiopathic inflammatory myopathy which may be associated with statin exposure. It presents with severe proximal muscle weakness, high creatine kinase levels and muscle fiber necrosis. Treatment with intravenous immunoglobulins and immunosuppressants is often necessary. This entity is not commonly known among dermatologists as there are usually no extramuscular manifestations. We report a rare case of statin-associated anti-HMGCR immune-mediated necrotizing myopathy with dermatomyositis-like cutaneous features. The possibility of anti-HMGCR immune-mediated necrotizing myopathy should be considered in patients with cutaneous dermatomyositis-like features associated with severe proximal muscle weakness, highly elevated creatine kinase levels and possible statin exposure. This indicates the importance of muscle biopsy and specific autoantibody testing for accurate diagnosis, as well as significant therapeutic implications.

scholarly journals The Pathognomonicity of Gottron’s Sign

2016 ◽  
Vol 8 (1) ◽  
Author(s):  
Heather M. Babcock BSc ◽  
Mohammed S. Osman MD PhD ◽  
Tiffany Kwok MD ◽  
Stephen Chihrin MD ◽  
Stephanie O. Keeling MD MSc ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Connective Tissue ◽  
Muscle Weakness ◽  
Muscle Biopsy ◽  
Connective Tissue Diseases ◽  
Proximal Muscle Weakness ◽  
Erythematous Rash ◽  
Proximal Muscle ◽  
History Of ◽  
Distal Interphalangeal

This article presents the case of a previously healthy 43-year-old female who presented with a 3-month history of progressive, symmetrical, bilateral, proximal muscle weakness accompanied by a violaceous-to-erythematous rash involving her hands, arms, thighs, chest, and face. She had conspicuous non-edematous periorbital violaceous patches with telangiectasia and prominent warm violaceous macules overlying the metacarpophalangeal (MCP) and proximal interphalangeal (PIP) joints. Muscle biopsy confirmed dermatomyositis. Gottron’s sign is the most specific cutaneous finding of dermatomyositis and is present in at least 70% of patients. The lesions begin as non-palpable flat macules or patches (Gottron’s “sign”) or are firm and raised (Gottron’s “papules”), but the lesions eventually coalesce into raised non-blanching plaques that occur over bony prominences – typically the MCP, PIP, and/or distal interphalangeal joints. Gottron’s sign (and papules) are pathognomonic for dermatomyositis, although some other conditions may have similar presentations. Gottron’s sign must always be explained, as dermatomyositis may be primary or secondary to malignancy or other connective tissue diseases, and none of the conditions that make up the differential diagnosis are benign.

scholarly journals A case report: autosomal recessive limb girdle muscular dystrophy caused by a novel mutation (c. 287A > G) in POMT2 gene of a Chinese Han patient

2019 ◽  
Author(s):  
Yanlu Gao ◽  
Zhixia Kang ◽  
Xiaojing Wei ◽  
Jing Miao ◽  
Xuefan Yu
Keyword(s):  
Creatine Kinase ◽  
Cognitive Impairment ◽  
Case Report ◽  
Muscular Dystrophy ◽  
Muscle Weakness ◽  
Autosomal Recessive ◽  
Limb Girdle Muscular Dystrophy ◽  
Compound Heterozygous ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle

Abstract BACKGROUND Autosomal recessive limb girdle muscular dystrophy 2N is caused by mutations in the POMT2 gene. The disease is characterized by proximal muscle weakness,with minimal progression, with cognitive impairment,a significantly elevated serum level of creatine kinase. CASE PRESENTATION A 9-year-old boy presented with proximal muscle weakness since the last 4 years,with minimal progression.There was no significant family history.Medical examination showed no generalized muscle hypertrophy. Serum creatine kinase level was 52-fold higher than the normal value. Wechsler Intelligence scale for Children (WISC, 4) suggested mild cognitive impairment (IQ =74). DNA sequence analysis identified a novel missense mutation (c. 287A > G) and a known mutation (c. 1261C > T). CONCLUSIONS This case report of autosomal recessive limb girdle muscular dystrophy 2N caused by a novel compound heterozygous mutation expands the genotypic spectrum of POMT2 gene.

scholarly journals ANCA-associated vasculitis and severe proximal muscle weakness

2021 ◽  
pp. 1-3
Author(s):  
Jordan S. Dutcher ◽  
Albert Bui ◽  
Tochukwu A. Ibe ◽  
Goyal Umadat ◽  
Eugene P. Harper ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Anca Associated Vasculitis

Juvenile dermatomyositis: a case of delayed recognition with unusual complication of nephrocalcinosis

2021 ◽  
Vol 14 (4) ◽  
pp. e241152
Author(s):  
Geminiganesan Sangeetha ◽  
Divya Dhanabal ◽  
Saktipriya Mouttou Prebagarane ◽  
Mahesh Janarthanan
Keyword(s):  
Muscle Weakness ◽  
Juvenile Dermatomyositis ◽  
Inflammatory Myopathy ◽  
Unusual Complication ◽  
Ultrasound Screening ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Calcinosis Cutis ◽  
First Case ◽  
Medullary Nephrocalcinosis

Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in children and is characterised by the presence of proximal muscle weakness, heliotrope dermatitis, Gottron’s papules and occasionally auto antibodies. The disease primarily affects skin and muscles, but can also affect other organs. Renal manifestations though common in autoimmune conditions like lupus are rare in JDM. We describe a child whose presenting complaint was extensive calcinosis cutis. Subtle features of proximal muscle weakness were detected on examination. MRI of thighs and a muscle biopsy confirmed myositis. Nephrocalcinosis was found during routine ultrasound screening. We report the first case of a child presenting with rare association of dermatomyositis, calcinosis cutis and bilateral medullary nephrocalcinosis.

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