Stormorken Syndrome: A Rare Cause of Myopathy With Tubular Aggregates and Dystrophic Features

2019 ◽  
Vol 34 (6) ◽  
pp. 321-324 ◽  
Author(s):  
Ang Li ◽  
Xuan Kang ◽  
Frederick Edelman ◽  
Andrew J. Waclawik
Keyword(s):  
Electron Microscopy ◽  
Genetic Testing ◽  
Muscle Weakness ◽  
Genetic Disorder ◽  
Aggregate Formation ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Tubular Aggregates ◽  
Muscle Specimen ◽  
Myopathic Changes

Stormorken syndrome is a rare genetic disorder (MIM 185070) first reported in 1983 with thrombocytopenia, muscle weakness, asplenia, and miosis caused by a mutation of the stromal interaction molecule 1 ( STIM1) gene.1 The muscle weakness is caused by a myopathy with tubular aggregate formation. We report a family in which both child and mother presented with proximal muscle weakness and thrombocytopenia. Histologic, histochemical, and electron microscopy studies were performed on the muscle specimen. It documented accumulation of tubular aggregates and chronic myopathic changes with dystrophic features. Genetic testing revealed that both mother and son carried a missense mutation of c.326A>G in exon 3 of the STIM1 gene, which is novel for Stormorken syndrome. We suggest that patients with unexplained chronic idiopathic thrombocytopenia and proximal weakness have genetic testing for Stormorken syndrome.

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.

scholarly journals Juvenile dermatomyositis - A case report with review on oral manifestations and oral health considerations

2018 ◽  
Vol 44 (1) ◽  
pp. 52-61
Author(s):  
Pritesh Ruparelia ◽  
Oshin Verma ◽  
Vrutti Shah ◽  
Krishna Shah
Keyword(s):  
Oral Health ◽  
Muscle Weakness ◽  
Juvenile Dermatomyositis ◽  
Oral Manifestations ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Inflammatory Myositis ◽  
Life Threatening

Juvenile Dermatomyositis is the most common inflammatory myositis in children, distinguished by proximal muscle weakness, a characteristic rash and Gottron’s papules. The oral lesions most commonly manifest as diffuse stomatitis and pharyngitis with halitosis. We report a case of an 8 year old male with proximal muscle weakness of all four limbs, rash, Gottron’s papules and oral manifestations. Oral health professionals must be aware of the extraoral and intraoral findings of this rare, but potentially life threatening autoimmune disease of childhood, for early diagnosis, treatment, prevention of long-term complications and to improve the prognosis and hence, the quality of life for the patient.

scholarly journals Dermatomyositis-specifikus autoantitesttel rendelkező és autoantitest-negatív betegeink klinikai jellemzőinek és laboratóriumi paramétereinek összehasonlítása

2015 ◽  
Vol 156 (36) ◽  
pp. 1451-1459 ◽  
Author(s):  
Levente Bodoki ◽  
Dóra Budai ◽  
Melinda Nagy-Vincze ◽  
Zoltán Griger ◽  
Zoe Betteridge ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Matrix Protein ◽  
Skin Lesions ◽  
Clinical Findings ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Nuclear Matrix Protein ◽  
Specific Antibodies ◽  
Antibody Positivity ◽  
Specific Autoantibody

Introduction: Myositis is an autoimmune disease characterised by proximal muscle weakness. Aim: The aim of the authors was to determine the frequency of dermatomyositis-specific autoantibodies (anti-Mi-2, anti-transcriptional intermediary factor 1 gamma, anti-nuclear matrix protein 2, anti-small ubiquitin-like modifier activating enzyme, anti-melanoma differentiation-associated gene) in a Hungarian myositis population and to compare the clinical features with the characteristics of patients without myositis-specific antibodies. Method: Antibodies were detected using immunoblot and immunoprecipitation. Results: Of the 330 patients with nyositis, 48 patients showed dermatomyositis-specific antibody positivity. The frequency of antibodies in these patients was lower than those published in literature Retrospective analysis of clinical findings and medical history revealed that patients with dermatomyositis-specific autoantibody had more severe muscle weakness and severe skin lesions at the beginning of the disease. Conclusions: Antibodies seem to be useful markers for distinct clinical subsets, for predicting the prognosis of myositis and the effectiveness of the therapy. Orv. Hetil., 2015, 156(36), 1451–1459.

scholarly journals SEVERE PROXIMAL MUSCLE WEAKNESS IN A PATIENT WITH ANKYLOSING SPONDYLITIS WITH MAJOR CLINICAL RESPONSE TO SECUKINUMAB

2021 ◽  
Author(s):  
Lucas Brandão Araujo da Silva ◽  
Matheus Santos Rodrigues Silva ◽  
Aline Capellato Dias Baccaro ◽  
Rafael Giovani Misse ◽  
Clarice Tanaka ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Clinical Response ◽  
Muscle Weakness ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle

scholarly journals A Case of a 34-Year-Old Female with Acute Hypoxemic Respiratory Failure and Proximal Muscle Weakness

2017 ◽  
Vol 2017 ◽  
pp. 1-3
Author(s):  
Alex Diaz ◽  
Surit Sharma
Keyword(s):  
Respiratory Failure ◽  
Muscle Weakness ◽  
Length Of Hospital Stay ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Hypoxemic Respiratory Failure ◽  
Acute Hypoxemic Respiratory Failure ◽  
Wound Botulism ◽  
Life Threatening Illness ◽  
Life Threatening

Wound associated botulism is an unusual presentation. Early detection of this potentially life-threatening illness can significantly shorten length of hospital stay and improve prognosis. We present a case of a 34-year-old female with a history of heroin abuse who presented to the ED with acute respiratory failure, diplopia, and proximal muscle weakness. There was early concern for wound botulism as the instigating process. After discussion with the CDC, she was given equine serum heptavalent botulism antitoxin. Laboratory analysis later confirmed our suspicion. Symptoms improved and the patient was liberated from mechanical ventilation on day 14 and discharged from the hospital on day 23.

Proximal Muscle Weakness in 10-year-old Female Gymnast

2017 ◽  
Vol 49 (5S) ◽  
pp. 665
Author(s):  
Peter Waller ◽  
David Lessman ◽  
Philip Skiba
Keyword(s):  
Muscle Weakness ◽  
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

scholarly journals Proximal muscle weakness

2019 ◽  
Vol 19 (4) ◽  
pp. 321-325
Author(s):  
Paloma Gonzalez-Perez ◽  
Matthew Torre ◽  
Jeffrey Helgager ◽  
Anthony A. Amato
Keyword(s):  
Muscle Weakness ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle
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