Proximal Muscle Weakness Secondary to Hyperkalemia in a Patient with Methylmalonic Acidemia: A Case Report

PM&R ◽  
2013 ◽  
Vol 5 ◽  
pp. S175-S175
Author(s):  
Gilbert Siu ◽  
Ruth Polillo ◽  
Niña Carmela Tamayo ◽  
Natalie A. Hyppolite
Keyword(s):  
Case Report ◽  
Muscle Weakness ◽  
Methylmalonic Acidemia ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle

scholarly journals Hypothyroidism Presenting as Hoffman’s Syndrome – A Case Report

2015 ◽  
Vol 16 (2) ◽  
pp. 112-114
Author(s):  
NS Neki ◽  
Ishu Singh ◽  
Jasbir Kumar ◽  
Ankur Jain ◽  
Tamil Mani
Keyword(s):  
Case Report ◽  
Thyroid Function ◽  
Muscle Weakness ◽  
Muscle Biopsy ◽  
Muscle Hypertrophy ◽  
Thyroid Function Tests ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Muscle Enzyme ◽  
Marked Elevation

Hoffman syndrome is characterized by pseudohypertrophy of muscles, muscle’s weakness & stiffness complicating hypothyroidism. We describe the disorder in a 45 years old female admitted with complaints of myalgia, proximal muscle weakness & calf muscle hypertrophy since 11 months. Thyroid function tests, marked elevation of muscle enzyme, electromyogram & muscle biopsy established the diagnosis of thyroid myopathy with Hoffman’s syndrome. Therapy with levothyroxine resulted in marked clinical & biochemical improvements.J MEDICINE July 2015; 16 (2) : 112-114

No. 174 Proximal Muscle Weakness as a Result of Osteomalacia Associated With Celiac Disease in a Young Woman: A Case Report

PM&R ◽  
2014 ◽  
Vol 6 (8) ◽  
pp. S129
Author(s):  
Hikmet Kocyigit ◽  
Ozlem Akan ◽  
Bengi Ozoglu Oz ◽  
Hatice Alev Gurgan
Keyword(s):  
Celiac Disease ◽  
Case Report ◽  
Young Woman ◽  
Muscle Weakness ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle

scholarly journals PROXIMAL MUSCLE WEAKNESS RESPONDING TO SELENIUM THERAPY: A CASE REPORT

1984 ◽  
Vol 18 ◽  
pp. 191A-191A
Author(s):  
M R Brown ◽  
J M Lyons ◽  
T W Curtis ◽  
B Thunberg ◽  
W J Cochran ◽  
...  
Keyword(s):  
Case Report ◽  
Muscle Weakness ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Selenium Therapy

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 Panniculitis as an Initial Presentation of Dermatomyositis: A Case Report

2020 ◽  
Vol 58 (223) ◽  
pp. 181-184
Author(s):  
Anjal Bisht ◽  
Niraj Parajuli ◽  
Monasha Vaidya ◽  
Sumida Tiwari
Keyword(s):  
Case Report ◽  
Skin Rash ◽  
Muscle Weakness ◽  
Muscle Disease ◽  
Initial Presentation ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Muscle Enzymes ◽  
Typical Skin

Dermatomyositis is an idiopathic muscle disease characterized by proximal muscle weakness, raised muscle enzymes, characteristic changes in electromyography and typical skin rash and biopsy findings. Dermatological features like Gottron’s sign and papules are considered as pathognomonic for dermatomyositis. Panniculitis is one of the rare findings in DM. Here, we report a case of DM in 37 years old female who presented with only panniculitis and the diagnosis was delayed by more than a year.

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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