Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997. [orpha.net]

Better understand how problems present differently in infants, children, and adolescents with age-specific diagnoses. [books.google.com]

Cardiac disease may be present in up to 33%. [emedicine.medscape.com]

P.III-2 always presented with muscle pain after effort and global muscle fatigability. No myoglobinuria was reported. P.III-3 is the less affected and currently only presents with muscle fatigability. [jnnp.bmj.com]

• Weakness

  Case 58A A Woman with Leg Numbness Pain Weakness and Slow Nerve Conduction Velocities 372 Case 58B A Boy with Leg Weakness 375 Case 59 A Man with Hand Weakness and Numbness After Skiing 383 Case 60 A Man with Recurrent Foot Drop 386 Case 61 An Elderly [books.google.com]

  […] of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. [malacards.org]

  […] muscle weakness Mainly manifests with ophthalmoparesis and with bulbar weakness manifesting with dysarthria and dysphagia Facioscapulohumeral muscular dystrophy Approximately 4 per 100,000 population Face and arm weakness, scapular winging, and later [clevelandclinicmeded.com]

  While distal weakness and myotonia are usually the first complaints in DM1, muscle pain, stiffness, fatigue or proximal weakness are the reasons for seeking medical advice in PROMM. [neuroweb.us]

• Fever

  chills, HA, myalgia following antibiotic treatment for syphilisJarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release) Fever, cough, conjunctivitis, coryza, diffuse rashMeasles Fever, night sweats, weight lossB symptoms of [memorize.com]

  Homepage Rare diseases Search Search for a rare disease Autosomal dominant myoglobinuria Disease definition A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged [orpha.net]

  […] creatine kinase 33 HP:0003236 Symptoms via clinical synopsis from OMIM: 58 Lab: myoglobinuria creatine kinase elevated between episodes G U: acute renal failure Muscle: episodic myalgia mild muscle weakness enlarged calf muscles Misc: precipitated by fever [malacards.org]

  A rare metabolic myopathy with characteristics of episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. [ncbi.nlm.nih.gov]

• Asymptomatic

  Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997. [orpha.net]

  They may be asymptomatic at rest, but symptoms develop after exercise. Mitochondrial myopathies may be a part of a neurologic syndrome often involving the central nervous system. [clinicalgate.com]

  NORMAL OR ASYMPTOMATIC AGING CHANGES OF NERVOUS SYSTEM With advancing age the following changes occur: a. Mild loss of weight (100-200 g) with wide sulci and ventricles b. Mild neuronal loss, most easily seen in cerebellum c. [therapyedu.com]

  Age of clinical onset is highly variable and some affected individuals are asymptomatic. [MIM:613882] Hypomagnesemia, seizures, and mental retardation (HOMGSMR): A disease characterize... [selfdecode.com]

• Sepsis

  Thyrotoxic crisis Pheochromocytoma Acute porphyria crisis Levodopa withdrawal syndrome Sepsis References [1] The differential diagnoses listed here are not exhaustive. [amboss.com]

  Salmonella typhi sepsis and rhabdomyolysis with acute renal failure: a rare presentation of a common disease. Saudi J Kidney Dis Transpl. 2010;21(4):732–4. 112. Khan FY. Rhabdomyolysis: a review of the literature. Neth J Med. 2009;67(9):272–83. 113. [ojrd.biomedcentral.com]

  The mortality is high secondary to frequent occurrence of multiple organ failure and sepsis. Muscle strength recovers slowly over several months. Serum CK levels are normal or moderately elevated. [sites.google.com]

• Vomiting

  Branched chain ketoaciduria (BCK) - Higher incidence in Mennonite - Defect BCKDH ( BCK dehydrogenase ): Block in Ile, Leu & Val excretion • Chr 1, 6, 7, 19 - Sx: Maple syrup odor (sotolon) fron urine/skin, seizure, anorexia, vomiting, mental retardation [quizlet.com]

  Hyperthermia, tremor, nausea, vomiting, and clonus are common signs. Treatment includes removal of offending drugs, aggressive supportive care, cyproheptadine, and benzodiazepines (N Engl J Med 2005;352(11):1112 [PMID:15784664] ). [unboundmedicine.com]

  Signs & Symptoms GSD type VII usually begins in childhood and is characterized by weakness, pain and stiffness during exercise, sometimes associated with nausea and vomiting and dark, burgundy-colored urine due to the presence of myoglobin (myoglobinuria [rarediseases.org]

  […] triad of Muscle Weakness, myalgias, tea-colored urine is only present in 10% of cases Less than 50% report muscle pain or weakness Muscle pain (myalgias) Muscle Weakness Localized swelling or Bruising Constitutional symptoms Fever Malaise Nausea or Vomiting [fpnotebook.com]

  Unilateral facial drooping involving foreheadFacial nerve (LMN CN VII palsy) Urethritis, conjunctivitis, arthritis in maleReactive arthritis associated w/HLA-B27 Vascular birthmark (port-wine stain)Hemangioma (benign, but associated w/Sturge-Weber syndrome) Vomiting [memorize.com]

• Nausea

  Hyperthermia, tremor, nausea, vomiting, and clonus are common signs. Treatment includes removal of offending drugs, aggressive supportive care, cyproheptadine, and benzodiazepines (N Engl J Med 2005;352(11):1112 [PMID:15784664] ). [unboundmedicine.com]

  Signs & Symptoms GSD type VII usually begins in childhood and is characterized by weakness, pain and stiffness during exercise, sometimes associated with nausea and vomiting and dark, burgundy-colored urine due to the presence of myoglobin (myoglobinuria [rarediseases.org]

  Rhabdomyolysis Classic triad of Muscle Weakness, myalgias, tea-colored urine is only present in 10% of cases Less than 50% report muscle pain or weakness Muscle pain (myalgias) Muscle Weakness Localized swelling or Bruising Constitutional symptoms Fever Malaise Nausea [fpnotebook.com]

  PFK deficiency should be suspected in patients who experience exercise intolerance, nausea, and myoglobinuria. Fixed muscle weakness may develop later in life. [what-when-how.com]

  This form is indistinguishable from phosphofructokinase deficiency type VII or Tarui disease (PFKD) which is characterized by lifelong intolerance to vigorous exercise, often accompanied by cramps and nausea that are relieved by rest. [neuroweb.us]

• Masseter Spasm

  Stop surgery if it is elective and if there are signs of masseter spasm or a fulminant crisis. Continue surgery, if there is no hyperkalaemia, no acidosis and there are no triggers. [patient.info]

• Hypertension

  Alpha Actin 2 Familial Hypertrophic Cardiomyopathy (HCM) Dilated Cardiomyopathy 1AA (CMD1AA) ACVR2B Activin A Receptor, Type IIB 2 Congenital Heart Defects (CHD) Visceral Heterotaxy ACVRL1 (ALK1) Activin A Receptor, Type II-Like 1 Pulmonary Arterial Hypertension [bcm.edu]

  […] infection : Henoch-Schönlein purpura; think about intussusception hemolytic anemia, thrombocytopenia and acute renal failure after or with a diarrheal illness secondary to consumption of poorly cooked meat : hemolytic-uremic syndrome abdominal mass, hypertension [medicalmediareview.com]

  LIDDLE SYNDROME; LIDLS Is also known as pseudoaldosteronism;pseudoaldosteronism; pseudohyperaldosteronism type 1 Related symptoms: Autosomal dominant inheritance Muscle weakness Nevus Hypertension Tics SOURCES: DOID ORPHANET UMLS MONDO MESH GARD NCIT [mendelian.co]

  […] tenderness Increased CK Increased risk in chronic renal failure B-HMG-CoA Reductase Inhibitors (Statins) Phenformin/Fenfluramine Acute rhabdomyolysis Rapidly progressive weakness of all muscles Elevated CK and LDH Right heart valve lesions Pulmonary hypertension [neurodiffdx.com]

  […] hypocalciuria (disorder) {725393000, SNOMED-CT } Autosomal dominant primary microcephaly (disorder) {778070003, SNOMED-CT } Autosomal dominant prognathism of mandible (disorder) {778069004, SNOMED-CT } Autosomal dominant progressive nephropathy with hypertension [phinvads.cdc.gov]

• Erythema

  […] autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode) Child uses arms to stand up from squatGowers sign (Duchenne muscular dystrophy) Child with fever later develops red rash on face that spreads to body“Slapped cheeks” (erythema [memorize.com]

  […] thinning syndrome (disorder) {722439009, SNOMED-CT } Enlarged parietal foramina (disorder) {718099006, SNOMED-CT } Episodic ataxia (disorder) {421455009, SNOMED-CT } Epithelial recurrent erosion dystrophy of cornea (disorder) {715908008, SNOMED-CT } Erythema [phinvads.cdc.gov]

  Localized or diffuse erythema, maculopapular eruption, scaling eczematoid dermatitis, or exfoliative dermatitis are some descriptors of the rash. [sites.google.com]

• Myopathy

  Metabolic and mitochondrial myopathies; Sporadic inclusion body myositis; Toxic myopathies; Idiopathic Inflammatory myopathies; Approach to muscle disease. [books.google.com]

  359.6 Inflammatory myopathy in other diseases 359.8 Other myopathies 359.9 Myopathy, unspecified 710.3 Dermatomyositis 710.4 Polymyositis ICD-10 Codes G71.0 Muscular dystrophy, congenital G71.19 Myotonic disorders G72.2 Myopathy due to other toxic agents [clinicalgate.com]

  Inherited myopathies can be further subclassified as muscular dystrophies, congenital myopathies, mitochondrial myopathies, and metabolic myopathies. [clevelandclinicmeded.com]

  Metabolic Myopathies. London, WB Saunders Co. Ltd., 1995. pp 1-21. Griggs RC, Mendell JR, Miller RG (eds): Evaluation and treatment of myopathies. Philadelphia, FA Davis Co., 1995. [path.upmc.edu]

  (MEGF10) DISTAL MYOPATHIES Distal myopathy with decreased caveolin 3 (CAV3) Miyoshi muscular myopathy (DSYF) Miyoshi muscular myopathy 3 (ANO5) Distal myopathy, with anterior tibial onset (DSYF) Distal myopathy 1, Laing (MYH7) Tardive tibial muscular [meduniwien.ac.at]

• Muscle Weakness

  […] with Weakness Elevated Cholesterol and Serum Creatine Kinase Levels 550 Case 88 An Older Woman with Leg Weakness and Atrophic Muscle Fibers on Biopsy 554 Case 89A A Woman with Muscle Weakness and a Skin Rash 559 Case 90 A Man with Muscle Pains 567 Case [books.google.com]

  […] episodes G U: acute renal failure Muscle: episodic myalgia mild muscle weakness enlarged calf muscles Misc: precipitated by fever, viral illness, prolonged exercise, or alcohol use Clinical features from OMIM: 160010 MalaCards organs/tissues related [malacards.org]

  Diseases related with Muscle weakness and Renal insufficiency In the following list you will find some of the most common rare diseases related to Muscle weakness and Renal insufficiency that can help you solving undiagnosed cases. [mendelian.co]

  Peripheral neuropathy Graves’ ophthalmopathy, extraocular muscle weakness Sarcoidosis myopathy Asymptomatic muscle involvement in ≤50% sarcoidosis patients Symmetrical proximal muscle weakness Focal muscle weakness from sarcoid granuloma Peripheral neuropathy [clevelandclinicmeded.com]

  In addition to proximal muscle weakness, there may or may not be: Distal muscle weakness. Muscle hypertrophy. Contractures. Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.) [patient.info]

• Myalgia

  Myoglobinuria, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing: Human phenotypes related to Myoglobinuria, Autosomal Dominant: 33 # Description HPO Frequency HPO Source Accession 1 muscle weakness 33 HP:0001324 2 myalgia [malacards.org]

  Our patient also had myalgias at rest for unclear reasons. The laboratory features of phosphorylase deficiency usually include a highly elevated CK during attacks and a normal or mildly elevated CK at baseline. [path.upmc.edu]

  Homepage Rare diseases Search Search for a rare disease Autosomal dominant myoglobinuria Disease definition A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged [orpha.net]

  A rare metabolic myopathy with characteristics of episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. [ncbi.nlm.nih.gov]

• Episodic Myalgia 

  Homepage Rare diseases Search Search for a rare disease Autosomal dominant myoglobinuria Disease definition A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged [orpha.net]

  […] failure Muscle: episodic myalgia mild muscle weakness enlarged calf muscles Misc: precipitated by fever, viral illness, prolonged exercise, or alcohol use Clinical features from OMIM: 160010 MalaCards organs/tissues related to Myoglobinuria, Autosomal [malacards.org]

  A rare metabolic myopathy with characteristics of episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. [ncbi.nlm.nih.gov]

• Osteoporosis

  […] corneaKayser-Fleischer rings (copper accumulation from Wilson disease) Hamartomatous GI polyps, hyperpigmentation of mouth/feet/handsPeutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; ↑ cancer risk, mainly GI) Hepatosplenomegaly, osteoporosis [memorize.com]

  If there is concern for osteoporosis, exercise can be low impact such as swimming and stationary bicycle. Educate patients on the warning signs of over exertion such as dark colored urine (indicating myoglobinuria), muscle pain or cramps. [now.aapmr.org]

  5 Osteoporosis With Pseudoglioma 1 Osteoporosis, early-onset, susceptibility to, autosomal dominant 1 Otitis media, susceptibility to 2 Oto-Palato-Digital Syndrome Type 1 8 Oto-Palato-Digital Syndrome, Type II 9 Otofaciocervical Syndrome 5 Otospondylomegaepiphyseal [preventiongenetics.com]

• Paresis

  Charcot-Marie-Tooth neuropathy, X-linked (GJB1) Charcot-Marie-Tooth disease, type 4A (GDAP1) Charcot-Marie-Tooth disease, axonal, type 2K (GDAP1) Charcot-Marie-Tooth disease, recessive intermediate, A (GDAP1) Charcot-Marie-Tooth disease, axonal, with vocal cord paresis [meduniwien.ac.at]

  Energy substrates to bypass the biochemical pathway that is dysfunctional may need to be given intravenously, particularly if there is vomiting or gastrointestinal paresis. [link.springer.com]

  Myalgia, fatigue, exercise intolerance, proximal and distal muscle weakness and slowly progressive paresis of the extra ocular muscles. Marked hypotonia, respiratory muscle weakness and feeding difficulty in most severe cases. [intechopen.com]

  Episodic ataxia type 2 CACNA1A Episodic ataxia type 5 CACNB4 Episodic ataxia type 6 SLC1A3 Episodic pain syndrome type 2, familial SCN10A Episodic pain syndrome type 3, familial SCN11A Erythermalgia, primary SCN9A Ethylmalonic encephalopathy ETHE1 Facial paresis [centogene.com]

  2K 4 Charcot-Marie-Tooth disease, axonal, type 2A2B 3 Charcot-Marie-Tooth disease, axonal, type 2EE 1 Charcot-Marie-Tooth Disease, Axonal, Type 2O 6 Charcot-Marie-Tooth disease, axonal, type 2W 1 Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis [preventiongenetics.com]

• Asthenia

  Approximately 10% of patients stop the drug because of adverse events, principally gastrointestinal intolerance and asthenia. CBC and liver function tests should be monitored every month. Riluzole does not produce an improvement in symptoms. [neuroweb.us]

  […] paresthesia, burning Negative: numbness or sensory ataxia ChLORIDE-PP Chronological evolution of symptoms Did the symptom occur in a focal nerve distribution before it became confluent (e.g., MMN vs length-dependent polyneuropathy) Distinguish weakness from asthenia [sites.google.com]

• Renal Insufficiency

  Some will eventually develop renal insufficiency. [mendelian.co]

  1-3 weeks by group A β-hemolytic streptococcal pharyngitis or impetigo and presenting with dark urine, proteinuria, renal insufficiency : postinfectious glomerulonephritis (order antistreptolysin-O, anti-DNase B antibodies antihyaluronidase, C3) preceded [medicalmediareview.com]

  insufficiency (colchicine has renal excretion and thus tends to build up to toxic levels in these set of patients). [sites.google.com]

• Kidney Failure

  Rhabdomyolysis For patients who present with rhabdomyolysis, treatment is aimed at preventing kidney failure in the acute setting. Vigorous hydration with close monitoring of kidney function and electrolytes are paramount. [clevelandclinicmeded.com]

Instant Workups (2008, reviewed here ) Sabatine, Marc S., MD MPH. Pocket Medicine (2011) American College of Physicians (2012), Board Basics 3 (reviewed here ) [medicalmediareview.com]

Secondary: Postradiation neck extensor myopathy, Anterior scar contracture, Postbotulinum toxin injection, Cushing syndrome, Carnitine deficiency, Hypothyroidism, Hypokalemia, Hyperparathyroidism Other : Malignancy, Postsurgical Diagnostic Workup of Dropped [sites.google.com]

[…] to new treatments. [books.google.ro]

Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders. [books.google.de]

Treatment Early treatment, especially for babies, is key to holding off the damage in the body. Two medications replace the missing protein and help your body process sugar correctly. You take them by injection. [webmd.com]

In acquired myopathies, treatment is targeted toward the underlying cause. Treatment of statin myopathies is dependent on creatine phosphokinase levels and degree of muscle symptoms. Consider lower doses when initiating statin therapy. [clevelandclinicmeded.com]

PMID: 9443501 Prognosis Lee CH, Lam KK, Fung ST, Lee CT, Hsu KT Changgeng Yi Xue Za Zhi 1998 Jun;21(2):211-6. PMID: 9729658 Haltia M, Suomalainen A, Majander A, Somer H Brain Pathol 1992 Apr;2(2):133-9. [ncbi.nlm.nih.gov]

September 13-16, 2012 Orlando, FL Assistive Devices, Personal Experience, Gary Wooldridge Aquatic Therapy, Classroom Introduction, Sheralee Beebe Autoantibodies and Prognosis, Dr. [myositis.org]

Shorter incubation periods (≤7 days) portend more severe courses and a worse prognosis. The patient should be kept in quiet isolation, sedated but arousable. [unboundmedicine.com]

In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A. [books.google.ro]

Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures. [clevelandclinicmeded.com]

Etiology Clin Chim Acta 2013 Oct 21;425:125-7. Epub 2013 Aug 1 doi: 10.1016/j.cca.2013.07.018. PMID: 23911907 Diagnosis Coppens S, Koralkova P, Aeby A, Mojzikova R, Deconinck N, Kadhim H, van Wijk R Neuromuscul Disord 2016 Mar;26(3):207-10. [ncbi.nlm.nih.gov]

Etiology Inherited susceptibilit y : primarily autosomal dominant with reduced penetrance ∼ 50% of cases: associated with a mutation in the ryanodine receptor type 1 ( RYR -1 ). Some cases (< 10%) are due to a spontaneous mutation. [amboss.com]

Etiology Traumatic : exercise, Foley catheterization, nephrolithiasis, coitus Infectious : urinary tract infections Malignant : bladder, kidney, prostate Vascular : renal infarct, renal vein thrombosis, sickle cell disease and trait Toxic : cyclophosphamide [medicalmediareview.com]

The book also provides updated epidemiologic and statistical data throughout and includes a section on biostatistics in physical medicine and rehabilitation. [books.google.ro]

Epidemiology References: [1] [2] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

Epidemiology The incidence of MH is low, but the prevalence can be estimated as up to 1:3,000. [ 1 ] It is inherited as an autosomal dominant gene of variable penetrance. [ 6 ] As may be expected with any familial condition, there are geographical clusters [patient.info]

Epidemiology The reported frequency of MH in the United States ranges from 1 in 10,000 patients receiving anesthetics to 1 in 50,000; the reported frequency in children is higher. [emedicine.medscape.com]

Emphasis has been placed on the diagnosis and management of these disorders rather than on their pathophysiology. [books.google.com]

Triggering agents Volatile anesthetic agents (e.g., sevoflurane, enflurane, halothane, isoflurane, desflurane ) Succinylcholine References: [2] [3] [1] Pathophysiology Administration of triggering substances → calcium release from intercellular compartments [amboss.com]

Other agents such as desflurane, sevoflurane, and isoflurane can cause florid malignant hyperthermia (MH) reactions in the same way as halothane but are also associated with reactions with the onset delayed for several hours into anaesthesia. [ 3 ] Pathophysiology [patient.info]

Pathophysiology: Pathway Myocyte (muscle) injury by direct Trauma or altered energy production Muscle injury allows calcium influx Increased intracellular calcium destroys muscle fibers Release of muscle fiber contents into circulation Myoglobin Potassium [fpnotebook.com]

Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.com]

These mutations prevent the protein from reaching the cell membrane or alter the protein's ability to transport sodium and chloride ions. [selfdecode.com]

Pedigree: Autosomal dominant Autosomal recessive Treatment Treatment Options: The best treatment is prevention by using alternate anesthetic agents if the risk is recognized preoperatively. [disorders.eyes.arizona.edu]