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Autosomal Dominant Myoglobinuria


Presentation

  • 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]
Lymphedema
  • , Hereditary, ID 1 Lymphedema, Hereditary, III 2 Lymphedema, Primary, With Myelodysplasia 3 Lymphoproliferative Syndrome 2 2 Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 3 Lymphoproliferative Syndrome, X-Linked, 1 7 Lymphoproliferative Syndrome[preventiongenetics.com]
  • […] transporter defect (disorder) {766715000, SNOMED-CT } Metaphyseal dysplasia Braun Tinschert type (disorder) {717221005, SNOMED-CT } Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) {724145007, SNOMED-CT } Microcephalus, lymphedema[phinvads.cdc.gov]
Diplopia
  • An Older Woman with Progressive Muscle Weakness 572 Case 92 An HIVInfected Man with Muscle Weakness and Spasms 577 Case 93 A Woman with Limb Swelling and Pain 581 Case 94 A Man with a Bent Spine 584 Case 95 A Man with Muscle Stiffness and Later with Diplopia[books.google.com]
  • Myasthenia Gravis: Usually fatigable diplopia and ptosis are present.[sites.google.com]
Foot Deformity
  • Deformities 510 Case 81 A Woman with Droopy Eyelids and Ophthalmoplegia 515 Case 82 A Man with Weakness and Swelling in the Neck 522 Case 83 A Woman with Muscle Pains and Dark Urine 526 Case 84 A Woman with Progressive Proximal Muscle Weakness 533 Case[books.google.com]
  • A skeletal survey did not identify any other bone abnormalities other than hand and foot deformities.[mdpi.com]
  • deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease).[mendelian.co]
  • Orthopedic complications including hips dislocation, scoliosis, and foot deformities are also typical in CCD patients [ 28 ]. Clinical manifestations of MmD are highly variable.[intechopen.com]
Leg Pain
  • […] with Proximal Weakness 448 Case 72 A Young Woman with Distal Upper Extremity Weakness 454 Case 73A A Young Man with Episodic Weakness 464 Case 73B An African American Man with Hyperthyroidism and Acute Paralysis 470 Case 74 A Boy with Large Muscles Leg[books.google.com]
  • Rare cases present with distal leg pain or swelling with or without weakness or with asymptomatic hyperCKemia. Misdiagnosis as polymyositis can occur since inflammation can be present on muscle biopsy.[emedicine.medscape.com]
Foot Drop
  • 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]
  • It results in proximal weakness first affecting the pelvic girdle then the pretibial muscles ( foot drop ), and later on the pectoral muscles and upper limbs. Hypertrophy of the calves, quadriceps femoris and deltoid muscles is a consistent finding.[neuroweb.us]
  • One case is reported as presenting with foot drop - aged 41. [ 24 ] LGMD 2B (dysferlin) also known as Miyoshi myopathy Late teens, early 20s May have distal myopathy (Miyoshi myopathy). Markedly elevated CKs.[patient.info]
  • LGMD2G: Patients may have initial anterior tibial weakness causing foot drop or a typical LGMD phenotype. LGMD2H: Patients may have a late onset, slow progression, and facial weakness.[emedicine.medscape.com]
  • Ankle-foot orthoses provide dorsiflexion assist and ankle stabilization in those with significant foot drop.[sites.google.com]
Irritability
  • Fasciculations 594 Case 97 A Man with Large and Stiff Muscles 601 Case 98 A Boy with Short Stature Small Jaw Muscle Hypertrophy and Stiffness 609 Case 99 An Elderly Woman with Muscle Spasms 612 Case 100 A Woman with Proximal Muscle Weakness and Neuromuscular Irritability[books.google.com]
  • Platelet count, PT, PTT, plasma fibrinogen, plasma d-dimer (for suspected disseminated intravascular coagulation ) Hemoglobin electrophoresis (for suspected sickle cell disease or trait) A urine sample from a patient with hematuria Important associations irritative[medicalmediareview.com]
  • LGMD 1C - may have rippling muscle disease, characterised by signs of increased muscle irritability, such as percussion-induced rapid contraction, percussion-induced muscle mounding and/or electrically silent muscle contractions (rippling muscle). [ 9[patient.info]
  • Features that would suggest a steroid myopathy as opposed to relapse of myositis would be a normal CK, and absence of muscle membrane irritability on EMG.[sites.google.com]
Neglect
  • Identify and manage the psychosocial issues surrounding pediatric patients, including major depression and suicidality, sexual and physical abuse, child neglect, and violence.[books.google.com]
  • More specific biochemical tests, as determination of vitamin E and phytanic acid should not be neglected, once they can help the diagnosis of some treatable forms of ARA.[scielo.br]
Kidney Failure
  • But if the CPK ever exceeds 50 times normal, or if kidney failure develops, alternative lipid-lowering strategies like low-density lipoprotein (LDL) apheresis or red yeast rice should be considered.[clevelandclinicmeded.com]

Workup

  • 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]
Slow Nerve Conduction Velocities
  • 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]
  • nerve conduction velocity (disorder) {764854006, SNOMED-CT } Autosomal dominant spastic paraplegia type 29 (disorder) {733029008, SNOMED-CT } Autosomal dominant spastic paraplegia type 36 (disorder) {723819007, SNOMED-CT } Autosomal dominant spastic[phinvads.cdc.gov]
  • nerve conduction velocity, autosomanal dominant ARHGEF10 Smith-Magenis syndrome RAI1 Smith-Magenis syndrome, ULK2 related ULK2 Spastic ataxia Charlevoix-Saguenay type SACS Spastic ataxia type 1, autosomal dominant VAMP1 Spastic ataxia type 2, autosomal[centogene.com]

Treatment

  • Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders.[books.google.de]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment of the neuromuscular diseases has also un dergone dramatic change based on new discoveries in the fields of immunology and pharmacology.[books.google.com]

Prognosis

  • 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]

Etiology

  • 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]
  • The most common etiology is an autosomal dominant mutation in the ryanodine receptor (RyR1), making a screen of the family history a critical part of the preoperative evaluation.[unboundmedicine.com]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • Emphasis has been placed on the diagnosis and management of these disorders rather than on their pathophysiology.[books.google.com]
  • ., sevoflurane, enflurane, halothane, isoflurane, desflurane ) Succinylcholine References: [2] [3] [1] Pathophysiology Administration of triggering substances calcium release from intercellular compartments or delay in its reuptake calcium in muscle cells[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]

Prevention

  • 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]
  • Nonfunctional TRPM6 channels prevent Mg2 absorption in the intestine and cause too much Mg2 to be released in the urine. A lack o...[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]

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