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]

• 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]

• Absent Deep Tendon Reflex

  However, almost all individuals with MLS have absent deep tendon reflexes as an indication of a (mostly subclinical) sensorimotor axonopathy [ Danek et al 2001a, Jung et al 2001a ]. [ncbi.nlm.nih.gov]

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]

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]

Treatment of Manifestations Table 4. [ncbi.nlm.nih.gov]

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]

Prognosis Neuroacanthocytosis is a progressive disease, and in some cases may be complicated by poor nutritional status, cardiac abnormalities, and pneumonia. [brainfacts.org]

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]

Sometimes, physicians will prescribe antidepressants for the psychological problems that accompany neuroacanthocytosis. [1] Prognosis Neuroacanthocytosis is a progressive disease in which patients usually develop significant cardiac or neurologic complications [wikidoc.org]

This book describes in detail the latest clinical and etiological information regarding chorea. Management strategies, pathophysiology, and associated medical and psychiatric problems associated with chorea are also addressed. [books.google.com]

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]

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]

[…] mouth guards) for tongue and lips Anticonvulsant drugs for seizure control Antipsychotics are prescribed for psychiatric problems Dopamine antagonists are prescribed (but should be heavily monitored) to patients to suppress involuntary movement [8] Epidemiology [wikidoc.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]

[…] mouth guards) for tongue and lips Anticonvulsant drugs for seizure control Antipsychotics are prescribed for psychiatric problems Dopamine antagonists are prescribed (but should be heavily monitored) to patients to suppress involuntary movement [ 8 ] Epidemiology [en.academic.ru]

Management strategies, pathophysiology, and associated medical and psychiatric problems associated with chorea are also addressed. [books.google.com]

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]

Thus we now have the cells of interest in hand to further analyze the neuronal as well as erythrocytes pathophysiology. [newsletter.naadvocacy.org]

Pathophysiology The precise pathophysiology is not understood. Clues to the pathogenesis of the disorder arise from the observation that both the neurological and hematological systems are affected. [emedicine.medscape.com]

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]

However, an individual affected with Huntington's disease-like 2 has between 41 and 58 trinucleotide repeats. [16] Prevention There are no known prevention methods to slow the progression of HDL2. [wikidoc.org]

However, an individual affected with Huntington's disease-like 2 has between 41 and 58 trinucleotide repeats. [ 16 ] Prevention There are no known prevention methods to slow the progression of HDL2. [en.academic.ru]

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]