Edit concept Question Editor Create issue ticket

McLeod Neuroacanthocytosis Syndrome

MLS


Presentation

  • In conclusion, McLeod syndrome should be considered in patients presenting with CK elevation, slight myopathic or neuropathic signs, choreatic symptoms or cardiomyopathy. Pathognomonic is the variant erythrocyte Kell phenotype "McLeod".[hum-molgen.org]
  • There is significant variation in clinical presentation within families, including in causes of morbidity and mortality.[ncbi.nlm.nih.gov]
  • Sudhansu Chokroverty—a world-recognized expert in sleep medicine—presents the third edition of Sleep Disorders Medicine for the latest developments in this rapidly expanding specialty, with coverage of neuroscience and clinical application.[books.google.com]
  • Author History Adrian Danek, MD (2004-present) Carol Dobson-Stone, DPhil; University of New South Wales (2004-2012) Beat M Frey, MD (2012-present) Christoph Gassner, PhD (2012-present) Hans H Jung, MD (2004-present) Sohee Lee, PhD; New York Blood Center[ncbi.nlm.nih.gov]
Overeating
  • Movement Disorders collects over 90 of the most memorable and challenging movement disorder cases from the worldís leading authorities in this specialty.[books.google.com]
  • About 60% of individuals develop cardiac manifestations over time [ Witt et al 1992, Danek et al 2001a, Oechslin et al 2009 ].[ncbi.nlm.nih.gov]
  • Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist.[rarediseases.info.nih.gov]
  • We have grown steadily over this time, and now have the largest germline DNA test menu of any lab in America. The quality of DNA testing at PreventionGenetics is second to none. "Getting the tests right" has always been our first priority.[preventiongenetics.com]
  • Parkinson's disease, which is disorder that slowly gets worse over time. It causes tremors, slowness of movement, and trouble walking.[medlineplus.gov]
Grunting
  • Affected individuals have involuntary movements, including jerking motions (chorea), particularly of the arms and legs, and muscle tensing (dystonia) in the face and throat, which can cause grimacing and vocal tics (such as grunting and clicking noises[ghr.nlm.nih.gov]
  • Involuntary tensing of muscles (dystonia) in the face and throat can cause grimacing and vocal tics (such as grunting and clicking noises). Approximately half of all people with McLeod neuroacanthocytosis syndrome have seizures.[book-med.info]
  • Involuntary tensing of muscles ( dystonia ) in the face and throat can cause grimacing and vocal tics (such as grunting and clicking noises). About half of all people with McLeod neuroacanthocytosis syndrome have seizures.[rarediseases.info.nih.gov]
  • He was making involuntary suppressible sounds (grunts) and movements (pouting, protruding tongue and blinking eyes) intermittently [Video 1] and [Video 2]. These were simple vocal and motor tics.[neurologyindia.com]
Dysmetria
  • A progressive spinocerebellar degeneration with gait ataxia, dysmetria, and dysarthria; b. A demyelinating sensorimotor and axonal peripheral neuropathy with hyporeflexia and diminished vibration and position sense; c.[ncbi.nlm.nih.gov]
Pyramidal Tract Signs
  • Rarely, pyramidal tract signs; and d. Rarely, cranial nerve involvement [ Kane & Havel 1995, Tarugi & Averna 2011 ]. 3. Results in a chorea syndrome resembling Huntington disease 4.[ncbi.nlm.nih.gov]
Gait Ataxia
  • A progressive spinocerebellar degeneration with gait ataxia, dysmetria, and dysarthria; b. A demyelinating sensorimotor and axonal peripheral neuropathy with hyporeflexia and diminished vibration and position sense; c.[ncbi.nlm.nih.gov]
Cranial Nerve Involvement
  • Rarely, cranial nerve involvement [ Kane & Havel 1995, Tarugi & Averna 2011 ]. 3. Results in a chorea syndrome resembling Huntington disease 4.[ncbi.nlm.nih.gov]

Workup

  • About 30% of males with the McLeod blood group phenotype do not have neuromuscular or CNS findings at the time of initial diagnosis of the blood group abnormalities and are only recognized during routine workup in blood banks or in the course of family[ncbi.nlm.nih.gov]

Treatment

  • There are currently no treatments to prevent or slow the progression of McLeod neuroacanthocytosis syndrome and treatment is symptomatic and supportive.[rarediseases.info.nih.gov]
  • In addition to summarizing basic science and important technological aspects of diagnosis and treatment, this edition presents new chapters—on sleep and memory consolidation, neuroimaging, and more—in a color layout that makes it easy to access the latest[books.google.com]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • […] the end of each vignette Captures the ìhuman elementî in medicineófirst-person narratives simulate the experience of sitting at the elbow of a master clinician interviewing and examining the patient Designed to help hone diagnostic skills and inform treatment[books.google.com]
  • Treatment of Manifestations Table 4.[ncbi.nlm.nih.gov]

Prognosis

  • Prognosis Neuroacanthocytosis is a progressive disease, and in some cases may be complicated by poor nutritional status, cardiac abnormalities, and pneumonia.[brainfacts.org]
  • Prognosis A typical patient with severe McLeod syndrome that begins in adulthood lives for an additional 5 to 10 years. Patients with cardiomyopathy have elevated risk for congestive heart failure and sudden cardiac death.[ipfs.io]
  • The prognosis is often good in some patients with mild neurological or cardiac problems with a normal life span.[xpertdox.com]
  • The prognosis for a normal life span is often good in some patients with mild neurological or cardiac sequelae. McLeod syndrome is present in 0.5 to 1 per 100,000 of the population.[en.wikipedia.org]
  • Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. The age of onset and progression of these disorders also varies.[rarediseases.org]

Etiology

  • Similar articles: Aarskog syndrome Antibodies to a Retrovirus Etiologically Associated with Acquired Immunodeficiency Syndrome (AIDS) in Populations with Increased Incidences of the Syndrome Focus On: Acute Chest Syndrome - The Critical Cough Diagnosis[book-med.info]
  • However, there is usually no deficiency of beta-lipoprotein in other etiologies.[medlink.com]
  • CHOREA CAN BE CAUSED BY A MULTITUDE OF ETIOLOGIES: neurodegenerative, pharmacological, structural, metabolic, and others. In absence of other apparent causes, exclusion of Huntington's disease is often a first step in the diagnostic process.[pubfacts.com]

Epidemiology

  • Relevant External Links for XK Genetic Association Database (GAD) XK Human Genome Epidemiology (HuGE) Navigator XK Atlas of Genetics and Cytogenetics in Oncology and Haematology: XK No data available for Genatlas for XK Gene McLeod phenotype associated[genecards.org]
  • As a result, an individual with one relatively small deletion may have both diseases. [4] The phenotype may be present without the syndrome presenting. [5] Epidemiology and disease associations McLeod syndrome is present in 0.5 to 1 per 100,000 of the[ipfs.io]
  • As a result, individuals with one disease may have both. [ 4 ] The phenotype may be present without the syndrome presenting. [ 5 ] Epidemiology and disease associations McLeod syndrome is present in 0.5 to 1 per 100,000 the population.[dictionnaire.sensagent.leparisien.fr]
Sex distribution
Age distribution

Pathophysiology

  • We perform several studies (magnetic resonance imaging, volumetry, and spectroscopy, brain pathology, muscle histology, hematology) to study the clinical and pathological characteristics, and to elucidate the pathophysiology of the disorder in the setting[research-projects.uzh.ch]
  • Balances summaries of relevant pathophysiology with clear, practical clinical guidance to help you thoroughly understand the underlying science of diseases.[books.google.es]
  • Recent Findings : Although molecular defects associated with neuroacanthocytosis have been identified recently, their pathophysiology and the related RBC abnormalities are largely unknown.[pubfacts.com]

Prevention

  • There are currently no treatments to prevent or slow the progression of McLeod neuroacanthocytosis syndrome and treatment is symptomatic and supportive.[rarediseases.info.nih.gov]
  • Treatment There are currently no treatments to prevent or slow the progression of neuroacanthocytosis and treatment is symptomatic and supportive.[brainfacts.org]
  • The diseases appeared in both sexes, and were usually diagnosed in infancy. [17] Research [ edit ] Research is underway worldwide to increase scientific understanding of these disorders as well to identify prevention and treatment methods.[en.wikipedia.org]
  • Joachim Roesler, Anne Koch, Gönke Pörksen, Horst Von Bernuth, Sebastian Brenner, Gabriele Hahn, Rainer Fischer, Norbert Lorenz, Manfred Gahr and Angela Rösen‐Wolff, Benefit assessment of preventive medical check‐ups in patients suffering from chronic[doi.org]
  • Evaluation of relatives at risk : It is appropriate to clarify the genetic status of apparently asymptomatic at-risk relatives of any age in order to identify as early as possible those who would benefit from: (1) detailed blood compatibility information to prevent[ncbi.nlm.nih.gov]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!