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Myopathy and spasms

N Nakajima, H Sato, K Takahashi, G Hasegawa, K Mizuno, S Hashimoto, Y Sato, S Terai
BACKGROUND: Histopathology of muscularis externa in primary esophageal motility disorders has been characterized previously. We aimed to correlate the results of high-resolution manometry with those of histopathology. METHODS: During peroral endoscopic myotomy, peroral esophageal muscle biopsy was performed in patients with primary esophageal motility disorders. Immunohistochemical staining for c-kit was performed to assess the interstitial cells of Cajal (ICCs)...
March 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
Simon Edward Olpin, Elaine Murphy, Richard James Kirk, Robert William Taylor, Rosaline Quinlivan
Metabolic myopathies (MM) are rare inherited primary muscle disorders that are mainly due to abnormalities of muscle energy metabolism resulting in skeletal muscle dysfunction. These diseases include disorders of fatty acid oxidation, glyco(geno)lytic muscle disorders and mitochondrial respiratory chain (MRC) disease. Clinically these disorders present with a range of symptoms including infantile hypotonia, myalgia/exercise tolerance, chronic or acute muscle weakness, cramps/spasms/stiffness or episodic acute rhabdomyolysis...
June 2015: Journal of Clinical Pathology
Monica Masoero, Michela Bellocchia, Antonio Ciuffreda, Fabio Lm Ricciardolo, Giovanni Rolla, Caterina Bucca
We present a woman with heterozygous carnitine palmitoyl transferase 2 (CPT-2) deficiency who in the last 6 months suffered from episodic dyspnea and choking. Symptoms could not be attributed to her muscular energy defect, since heterozygous CPT-2 deficiency is usually asymptomatic or causes only mild muscle fatigability. Myopathy is usually triggered by concurrent factors, either genetic (additional muscle enzymes defects) or acquired (metabolic stress). The patient was referred to our respiratory clinic for suspect bronchial asthma...
May 2014: Allergy, Asthma & Immunology Research
Frank Schuster, Stephan Johannsen, Daniel Schneiderbanger, Norbert Roewer
BACKGROUND: Malignant hyperthermia (MH), a metabolic myopathy triggered by volatile anesthetics and depolarizing muscle relaxants, is a potentially lethal complication of general anesthesia in susceptible patients. The implementation of modern inhalation anesthetics that research indicates as less potent trigger substances and the recommended limitations of succinylcholine use, suggests there may be considerable decline of fulminant MH cases. In the presented study, the authors analyzed suspected MH episodes during general anesthesia of patients that were referred to the Wuerzburg MH unit between 2007 and 2011, assuming that MH is still a relevant anesthetic problem in our days...
September 23, 2013: BMC Anesthesiology
John M Rosen, Nancy Kuntz, Hector Melin-Aldana, Lee M Bass
Wilson disease (WD) is an autosomal-recessive disorder of hepatic copper metabolism that has tremendous variability in its presentation. Phenotypic diversity of the disease can lead to delayed diagnosis. We describe a case of WD in a 10-year-old boy presenting with 3 months of increasingly intense, spasmodic lower extremity muscle cramps. Physical examination revealed tenderness on calf palpation and dark flat lesions over his ankles, knees, and elbows. Initial testing revealed creatine kinase of 302 IU/L (normal 24-248 IU/L), hemoglobin of 8...
October 2013: Pediatrics
Siamak Karkheiran, Benedikt Bader, Mohammad Roohani, Adrian Danek, Gholam Ali Shahidi
Chorea-acanthocythosis (ChAc) is an inherited neurodegenerative disorder characterized by movement disorders, neuropsychiatric disturbances, neuropathy, myopathy, seizures and acanthocytosis accompanied by an elevated serum creatine kinase (CK) level. Its causative gene (VPS13A) produces chorein which is absent in ChAc patients as evaluated by Western blot assay. We report the first three Iranian patients whose disease has been confirmed by chorein Western blot. Our cases presented with heterogeneous courses of ChAc...
December 2012: Archives of Iranian Medicine
Manoj Kumar Mittal, Richard J Barohn, Mamatha Pasnoor, April McVey, Laura Herbelin, Thomas Whittaker, Mazen Dimachkie
OBJECTIVE: The frequency of ocular myasthenia gravis (OMG) in patients referred to an academic neuro-ophthalmology clinic for suspected myasthenia gravis is not known. Our objective was to determine the frequency of ocular OMG in patients referred to an academic neuro-ophthalmologist and determine alternate diagnoses and response to therapy. METHODS: We performed a retrospective chart review of patients presenting to the University of Kansas Neuro-Ophthalmology Clinic with suspected OMG over 9 years...
September 2011: Journal of Clinical Neuromuscular Disease
Michael D Stubblefield
Cancer rehabilitation is the subspecialty of rehabilitation medicine concerned with restoring and maintaining the highest possible level of function, independence, and quality of life to patients at all stages of their cancer diagnosis, including those undergoing potentially curative therapy and those receiving palliative care, as well as cancer survivors. Cancer rehabilitation physicians specialize in the evaluation and treatment of neuromuscular, musculoskeletal, and functional complications of cancer and cancer treatments such as acute and chronic pain, weakness, muscle spasm, myelopathy, radiculopathy, plexopathy, neuropathy, myopathy, deconditioning, contracture, spasticity, lymphedema, amputation, shoulder dysfunction, and gait disorders, among others...
June 2011: Seminars in Oncology
Natália Dias B Guimarães, Ana Paula Espindula, Laura Penna Rocha, Janaínna Grazielle Pacheco Olegário, Débora Tavares Resende Silva Abate, Renata Calciolari Rossi e Silva, Camila Lourencini Cavellani, Marlene Antônia dos Reis, Vicente de Paula Antunes Teixeira, Eumenia Costa da Cunha Castro, Rosana Rosa Miranda Corrêa
Kocher-Debré-Sémélaigne syndrome is a rare disease with little literature, which develops with myopathy in infancy associated with neuromuscular alterations, polymyositis with symmetrical proximal muscle weakness, pseudohypertrophy, muscular rigidity and spasms, exercise intolerance, myxoedema, short stature, and cretinism. Male patient aged 18 years old, 1.52 m in height, admitted in the General Hospital of Triângulo Mineiro Federal University on November 11, 2003, complaining of intense diffuse abdominal pain like severe cramps, without triggering factors, associated with asthenia and hyporexia...
January 2012: Annals of Diagnostic Pathology
Susanne A Schneider, Anthony E Lang, Elena Moro, Benedikt Bader, Adrian Danek, Kailash P Bhatia
Chorea-acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features. Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea-acanthocytosis...
July 30, 2010: Movement Disorders: Official Journal of the Movement Disorder Society
Danielle Carpenter, Azzam Ismail, Rachel L Robinson, Christopher Ringrose, Patrick Booms, David E Iles, P Jane Halsall, Derek Steele, Marie-Anne Shaw, Philip M Hopkins
In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully sequenced for RYR1 and presented with the non-synonymous change c.11315G>A/p.R3772Q. When present in the homozygous state c.11315*A is associated with myopathic symptoms.
October 2009: Muscle & Nerve
Kathleen A Hogan, Erika L Manning, John A Glaser
Weakness of the neck extensors can lead to "dropped head syndrome", a condition of progressive cervical kyphosis in which a patient is unable to hold their head up against the force of gravity. This condition can be associated with structural abnormalities of the spine as found in ankylosing spondylitis and vertebral fractures. Neuromuscular disorders, such as myasthenia gravis, muscular dystrophies, inflammatory myopathies, and motor neuron disorders such as amyotrophic lateral sclerosis (ALS) have also been reported as etiologies of dropped head syndrome...
August 2006: Southern Medical Journal
L P Volkova
Eye diseases rank third in the structure of morbidity among children aged 0 to 17 years. Acquired myopathy is the leading abnormality in the structure of morbidity, with diminished vision being in 28% of preschool children and in every two school graduates. Myopia is attended by the signs of systemic connective tissue dysplasia and impaired circulation due to autonomic dysfunction. Early diagnosis and correction of autonomic dysfunction is the basic line of the prevention and treatment of school myopia. Treatment of children can be organized in the medical room of a school...
March 2006: Vestnik Oftalmologii
Ahmad Sohail Sahibzada, Muhammad Shoaib Khan, Mohammed Javed
BACKGROUND: Osteomalacia is a common diagnosis in the Kohistani women presenting with aches and pains. This study was conducted to assess calcium and Phosphate levels in Kohistani women with osteomalacia. METHODS: 50 diagnosed cases of Osteomalacia selected from amongst the women presenting with body aches were included in the study. History regarding age, marital status, parity, dietary habits, socioeconomic status etc was taken. RESULTS: The median age was 23 years...
July 2004: Journal of Ayub Medical College, Abbottabad: JAMC
Ingrid Tein
Defects in fatty acid oxidation are a source of major morbidity and are potentially rapidly fatal. Fatty acid oxidation defects encompass a spectrum of clinical disorders, including recurrent hypoglycemic, hypoketotic encephalopathy or Reye-like syndrome in infancy with secondary seizures and potential developmental delay, progressive lipid storage myopathy, recurrent myoglobinuria, neuropathy, and progressive cardiomyopathy. As all of the known conditions are inherited as autosomal recessive diseases, there is often a family history of sudden infant death syndrome in siblings...
December 2002: Journal of Child Neurology
Helge Stormorken
In 1985, a new syndrome with the following characteristics was described: thrombopathia, thrombopenia, asplenia, miosis, headache, ichthyosis, dyslexia, muscle defect, and subsequently also hypocalcaemia. Skin and deep bleedings, leg spasms, disturbed dark vision and dyslexia are main worries. This paper describes these patients with a review of the investigations performed. Causes of the bleeding tendency are complex disturbances of the platelet membrane causing insufficient stability of the haemostatic plug, the nature of which is unresolved, but involves membrane scrambling...
December 10, 2002: Tidsskrift for Den Norske Lægeforening: Tidsskrift for Praktisk Medicin, Ny Række
D Boulmier, P Bazin
As well as pheochromocytoma, in which it has been established that an excess of circulating catecholamines is responsible for the development of catecholamine-induced acute myopathy, some rare cases have been reported of a similar cardiac incident following intense emotional stress. In this study, the case has been examined of a 56-year old female with no history of cardiovascular disorder who presented with intense, nitro-resistant prolonged chest pain mimicking an acute coronary syndrome immediately following a situation involving major psychological stress...
December 2000: Annales de Cardiologie et D'angéiologie
P S Soccio, W P Phillips, P Bonisteel, K A Bennett
BACKGROUND: Cytochrome oxidase-deficient mitochondrial myopathies represent a heterogeneous group of muscle disorders. Physical stress can cause life-threatening risks related to rhabdomyolysis or respiratory compromise. CASE: A 21-year-old primigravida with cytochrome C oxidase-deficient mitochondrial myopathy who presented for obstetric care at 8 weeks' gestation complained of muscle fatigue and spasm after exertion. The increased metabolic demands of pregnancy led to worsening pain, muscle fatigue, and ultimately complete immobility...
May 2001: Obstetrics and Gynecology
G Giordano, D Corradi, T D'Adda, M Melissari
Defects in mitochondrial enzymes, such as pyruvate dehydrogenase and cytochrome oxidase, cause hereditary disorders which lead to modifications in cellular pH due to the accumulation of pyruvate and lactic acid. Mitochondrial diseases include severe neonatal diseases and less severe forms of adult diseases. We report the case of lactic acidosis in a newborn girl who was delivered at 36 weeks of gestation and who died 3 months after birth. Her family history revealed a relative with tetraparesis and mental retardation...
February 2001: Pathologica
B de Wazières, J L Dupond
Mitochondrial and metabolic myopathies constitute a group of disorders characterised by abnormal muscular metabolism of energy. Most of these disorders are genetically transmitted. Recent progress in the field has led to spectacular advances in their classification and the understanding of the mechanisms involved, particularly in mitochondrail myopathies. Diagnosis can be made et any age; the patient can present manifestations that can be misleading for the clinician. Lipid myopathies and glycogenoses usually present as a myopathic syndrome associated with cramps, spasm and myalgia, with fatigue on effort...
February 15, 2001: La Revue du Praticien
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