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]

Serial assessment of patient MT with McLeod syndrome (MLS) and a cross-sectional study in nine patients with genetically confirmed chorea-acanthocytosis (ChAc) are presented along with a review of more than 20 case reports each from the literature. [scholars.northwestern.edu]

Lee S. 2007 27 Slowly progressive distal muscular atrophy of the bilateral upper limbs (O'Sullivan-McLeod syndrome) partially alleviated by intravenous immunoglobulin therapy. ( 17443046 ) Kawano Y....Kira J. 2007 28 Bronchial adenoid cystic carcinoma presenting [malacards.org]

In women, a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X - linked recessive disorders much more frequently than women. [ivami.com]

• Movement Disorder

  Core NA syndromes are one of the broad groups of NA disorders characterized by degeneration of the basal ganglia, movement disorders, cognitive impairment, and psychiatric features. NA syndromes are caused by disease-specific genetic mutations. [genome.jp]

  Sutton, Other Adult-Onset Movement Disorders with a Genetic Basis, Genetics of Movement Disorders, 10.1016/B978-012566652-7/50046-0, (511-540), (2003). Soohee Lee, David C.W. Russo, Marion E. Reid and Colvin M. [doi.org]

  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]

  Walker}, journal={Movement disorders : official journal of the Movement Disorder Society}, year={2012}, volume={27 13}, pages={ 1701-2 } } Marcelo Heller Miranda, Hans H. Jung, +1 author Ruth H. [semanticscholar.org]

• Weakness

  Case RH (27 years) underwent diagnosis because of slight generalized weakness. Clinical examination showed pseudohypertrophia of the calves and areflexia. Creatine kinase was 300-400 U/l. A peripheral blood smear showed 5% acanthocytes. [hum-molgen.org]

  Definition A multisystem disorder characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. [uniprot.org]

  Individuals with McLeod neuroacanthocytosis syndrome may also have reduced sensation and weakness in their arms and legs (peripheral neuropathy). [ghr.nlm.nih.gov]

  The first case had been authenticated as a genuine McLeod both by serology and by genotyping (R222G missense mutation) and the second case had a mutation in XK (IVS2+5G>A) and by serology exhibited very weak Kx antigen and no detectable Kell antigens, [ncbi.nlm.nih.gov]

• Anemia

  Signs of hemolytic anemia are seen in McLeod Syndrome. Elevated level of creatine kinase can be seen with myopathy in McLeod syndrome. [xpertdox.com]

  Common features include peripheral neuropathy, cardiomyopathy, and hemolytic anemia. Other features include limb chorea, facial tics, other oral movements (lip and tongue biting), seizures, a late-onset dementia, and behavioral changes. [en.wikipedia.org]

  The Kell blood group system can cause strong reactions to transfusions of incompatible blood and severe anemia in newborns of Kell-negative mothers. [rareconnect.org]

  Blood evaluation may show signs of hemolytic anemia. Elevated creatine kinase can be seen with myopathy in McLeod syndrome. [dictionnaire.sensagent.leparisien.fr]

• Asymptomatic

  Two asymptomatic or minimally symptomatic cases at ages expected to manifest the McLeod syndrome (MLS) were evaluated. [ncbi.nlm.nih.gov]

  Some neurologically asymptomatic relatives with significant acanthocytosis were identified during family screening, including some who were clinically affected. [typeset.io]

  Heterozygous female carriers are normally asymptomatic but may nevertheless present with a mild clinical manifestation of the disease. [mgz-muenchen.de]

  STUDY DESIGN AND METHODS: Two asymptomatic or minimally symptomatic cases at ages expected to manifest the McLeod syndrome (MLS) were evaluated. [doi.org]

• Congestive Heart Failure

  Patients who have cardiomyopathy bear substantial risk for development of congestive heart failure and sudden cardiac death. The prognosis is often good in some patients with mild neurological or cardiac problems with a normal life span. [xpertdox.com]

  Patients with cardiomyopathy have elevated risk for congestive heart failure and sudden cardiac death. The prognosis for a normal life span is often good in some patients with mild neurological or cardiac sequelae. [en.wikipedia.org]

  Patients with cardiomyopathy have elevated risk for congestive heart failure and sudden cardiac death. [ipfs.io]

  […] which may result in fluid buildup in the heart, lung and various body tissues (congestive heart failure). [rarediseases.org]

  In unusual patients with substantial cardiomyopathy, congestive heart failure must be treated by the appropriate specialist. Sudden death due to ventricular arrhythmia is possible and if it occurs also must be treated by the appropriate specialist. [emedicine.medscape.com]

• Dysphagia

  In contrast to Choreo-acanthocytosis, only exceptional Mcleod syndrome patients have lip or tongue biting, dysphagia, dystonia or parkinsonism6. [japi.org]

  Oro-facial dystonia leading to dysarthria and pronounced dysphagia is common. Food is ejected from the mouth by the tongue, such that many patients lose weight. Habitual tongue and lip biting are characteristic. [mgz-muenchen.de]

  Orofaciolingual involuntary movements and pseudobulbar disturbance commonly caused dysphagia and dysarthria that was sometimes severe, but biting of the lips or tongue was rarely seen. [typeset.io]

  […] legs and face) abnormal movements in the pelvis, shoulders and feet involuntary bending of the knees abnormal walking style dystonia (involuntary contractions that affect movement and posture) grimacing abnormal jaw movements drooling feeding problems dysphagia [medic8.com]

  He had dysphagia equally to both solids and liquids. 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]

• Heart Disease

  He presented with persistent muscle creatine kinase elevation and progressive heart disease and later developed a slowly progressive neuropathy and choreic movements. [read.qxmd.com]

  Patients with evidence of heart disease may also undergo the following additional tests: Cardiac catheterization and electrophysiological study - to determine the extent of heart disease and study abnormal heart rhythms. [clinicaltrials.gov]

  In addition, Whitley says Henry VIII may have suffered from a rare genetic disorder called McLeod syndrome, which causes heart disease and major psychological issues, including paranoia and general mental decline. Read the full story. [blog.smu.edu]

  Conversely, characteristic clinical features of MLS consist of myopathy, hepatosplenomegaly, and heart disease. 9, 12 On laboratory examination, elevated serum creatine kinase levels and acanthocytosis are observed in both diseases. [ajnr.org]

• Cardiomegaly

  In the case of several metabolically driven diseases such as ABL, HHBL, and aceruloplasminemia, multiple organ systems can be involved resulting in anemia, diabetes mellitus, cardiomegaly, hepatosplenomegaly, and hypothyroidism. [statpearls.com]

• Myopathy

  Transfusion; 43: 928-938 Jung HH, Brandner S (2002) Malignant McLeod myopathy. Muscle Nerve; 26: 424-427 Jung HH, Russo D, Redman C, Brandner S (2001) Kell and XK immunohistochemistry in McLeod myopathy. [research-projects.uzh.ch]

  People with McLeod neuroacanthocytosis syndrome also have problems with their muscles, including muscle weakness (myopathy) and muscle degeneration (atrophy). [ghr.nlm.nih.gov]

  Serum creatine kinase activity was increased in 11 cases but without clinical evidence of a myopathy. [typeset.io]

  Some patients develop myopathy, neuropathy, or psychiatric symptoms. Causes : The McLeod phenotype is caused due to recessive mutation McLeod gene which encodes for the Kell blood group system. [xpertdox.com]

• Muscle Weakness

  Neuromuscular manifestations include a (mostly subclinical) sensorimotor axonopathy and clinically relevant muscle weakness or atrophy. [rareconnect.org]

  1 McLeod syndrome is a new cause of axial muscle weakness. ( 29381810 ) DA-az-Manera J....Pagonabarraga J. 2018 2 Stepwise partitioning of Xp21: a profiling method for XK deletions causative of the McLeod syndrome. ( 28555782 ) Gassner C....Frey B.M. [malacards.org]

  People with McLeod neuroacanthocytosis syndrome also have problems with their muscles, including muscle weakness (myopathy) and muscle degeneration (atrophy). [ghr.nlm.nih.gov]

  There may also be muscle weakness, involuntary movements of the face and tongue, tongue/lip biting (which is mostly characteristic of Chorea-acanthocytosis), as well as difficulty with speech and eating, cognitive impairment, psychiatric symptoms, and [brainandlife.org]

• Muscular Atrophy

  atrophy of the hands (O'Sullivan-McLeod syndrome): clinical and magnetic resonance imaging presentation. ( 11041339 ) Petiot P....Vighetto A. 2000 46 Unusual muscle pathology in McLeod syndrome. ( 11032622 ) Barnett M.H....Pollard J.D. 2000 47 Kell, [malacards.org]

  Sensorimotor axonal neuropathy is also a typical clinical feature, which leads to distal-dominant muscular weakness with muscular atrophy. [bmcneurol.biomedcentral.com]

  Neurogenic muscular atrophy and low density of large myelinated fibres of sural nerve in chorea-acanthocytosis. J Neurol Neurosurg Psychiatry. 1981 Jul. 44(7):645-8. [Medline]. Orlacchio A, Calabresi P, Rum A, Tarzia A, Salvati AM, Kawarai T, et al. [emedicine.medscape.com]

• Compulsive Disorder

  In addition, these individuals may manifest psychiatric disorders such as depression, bipolar disorder, psychosis or obsessive-compulsive disorder. [ivami.com]

  They may also develop psychiatric disorders, such as depression, bipolar disorder, psychosis, or obsessive-compulsive disorder. [ghr.nlm.nih.gov]

  Adolescent obsessive compulsive disorder heralding chorea-acanthocytosis. Mov Disord 2008 ; 23 : 422 –5. 21. Scheid R, Bader B, Ott DV et al. Development of mesial temporal lobe epilepsy in chorea-acanthocytosis. Neurology 2009 ; 73 : 1419 –22. 22. [cambridge.org]

• Compulsive Behavior

  She had features of obsessive compulsive behavior and anxiety. Cranial nerve examination was normal. The limbs were hypotonic with power of 5/5 on Medical Research Council (MRC) scale in all the limbs. [ijcasereportsandimages.com]

  Some patients may exhibit self-mutilation, which may be related to behavioral compulsion (Walker et al., 2006). [movementdisorders.org]

  It has been observed that a mouth guard also reduced obsessive-compulsive behaviors and tics, 27 suggesting that the neuronal circuits controlling these behaviors may be closely linked. 28 Levetiracetam (250 mg twice daily [b.i.d.]) 29 or benztropine, [tremorjournal.org]

• Abnormal Behavior

  For the people who can be eligible for the supportive treatment of this neurological disorder could be those who have the symptoms as reported for this syndrome which includes the movement disorder, red blood cells abnormality, behavioral symptoms and [lybrate.com]

  Since last nine months she had developed abnormal behavior in the form of excessive and non-purposeful talking, repeating the sentences and motor acts. The caregivers reported the habit of self-mutilation. [ijcasereportsandimages.com]

• Chorea

  Chorea-acanthocytosis is described in [HD: H01432 ]. PKAN is allelic with HARP syndrome. [genome.jp]

  Serial assessment of patient MT with McLeod syndrome (MLS) and a cross-sectional study in nine patients with genetically confirmed chorea-acanthocytosis (ChAc) are presented along with a review of more than 20 case reports each from the literature. [scholars.northwestern.edu]

  McLeod syndrome and chorea acanthocytosis]. ( 12243006 ) Danek A. 2002 38 The chorea of McLeod syndrome. ( 11746618 ) Danek A....Monaco A.P. 2001 39 McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging [malacards.org]

  A family history indicated that the proband's mother had mild chorea. One elder brother, who died 10 years ago without a confirmed diagnosis, experienced chorea and mental disorders. [journals.lww.com]

• Seizure

  Findings not observed in RH are: progressive biopsy-proven dilative cardiomyopathy, grand mal seizures, psychotic episodes, cognitive impairment and chorea as the most prominent sign. [hum-molgen.org]

  A variety of anticonvulsants is given to patients with seizures so as to overcome the problems of seizures. [lybrate.com]

  He was treated with haloperidol to control the chorea and levetiracetam to control seizures. Six months after treatment, the proband was seizure-free, but little improvement was observed in chorea and cognitive dysfunction. [journals.lww.com]

  Seizures are the presenting manifestation in about 20% of individuals. Up to 40% of individuals with MLS eventually have seizures, usually described as generalized seizures. [ncbi.nlm.nih.gov]

• Dystonia

  Dystonia of the tongue can lead to swallowing difficulties. Seizures occur in approximately half of all people with McLeod neuroacanthocytosis syndrome. [ghr.nlm.nih.gov]

  The movement disorder consists of chorea, dystonia and tics. Parkinsonism may occur in more advanced stages. There is also prominent orofaciolingual dystonia producing frequent lip and tongue biting. [japi.org]

  Clincial features include chorea, oromandibular dystonia (which may be mutilating) or generalized dystonia, phonic tics, feeding/ tongue protrusion dystonia, head drops, ‘rubber man’ gait, seizures, neuropathy and behavioural disturbance (change in personality [teachneuro.blogspot.com]

  Sensory tricks in primary blepharospasm and idiopathic cervical dystonia. Neurol India 2017;65:532-6. [PUBMED] [Full text] 6. Kushwaha S, Panda A, Mehta V, Malik S, Pant I. Feeding dystonia: A classical presentation of neuroacanthocytosis. [neurologyindia.com]

  Botulinum toxin injections usually improve symptoms of dystonia. A feeding tube may be needed for individuals with feeding difficulties to maintain proper nutrition. [brainandlife.org]

• Peripheral Neuropathy

  Signs and symptoms of the disease include myopathy, atrophy, chorea (particularly affecting the arms and legs), peripheral neuropathy, dystonia in the face and throat and seizures. [ivami.com]

  Ghadiri-Sani M....Larner A.J. 2014 7 A novel XK gene mutation in a Taiwanese family with McLeod syndrome. ( 24635891 ) Chen P.Y....Yeh T.H. 2014 8 Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral [malacards.org]

  Individuals with McLeod neuroacanthocytosis syndrome may also have reduced sensation and weakness in their arms and legs (peripheral neuropathy). [ghr.nlm.nih.gov]

  Sensory symptoms have also been attributed to sensory axonal neuropathy [11, 13]. However, the pathogenesis of the peripheral neuropathy remains to be determined. [bmcneurol.biomedcentral.com]

  Common features include peripheral neuropathy, cardiomyopathy (diseases of the heart muscle, where the walls of the heart have become stretched, thickened or stiff), chorea (abnormal involuntary movement disorder), and hemolytic anemia. [xpertdox.com]

• Involuntary Movements

  These disorders are caused by different genetic mutations, and the signs and symptoms vary, but usually include chorea (involuntary, dance-like movements), parkinsonism (slowness of movement), dystonia (abnormal body postures), and problems walking. [brainandlife.org]

  He displayed mild oral involuntary movements, muscular hypotonia, and occasional mild choreal involuntary movements. No abnormalities of the eyes were apparent, unlike the patient in case 1. [ajnr.org]

  […] behaviour changes involuntary movements: - chorea - irregular dancing movements - dystonia - more sustained movements with posturing of the limbs, trunk, neck, face - tics. [contact.org.uk]

  His younger brother presented with grand mal seizures, involuntary movements and high muscle creatine kinase when aged 43 years. Clinical myopathy was absent in both, yet muscle biopsy showed mild myopathic changes. [read.qxmd.com]

Differential Diagnosis The differential diagnoses for these rare syndromes are many and sometimes may be indistinguishable from other disease entities without the appropriate radiological, laboratory, or genetic workup (see Table 7). [statpearls.com]

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]

• Acanthocytes

  A peripheral blood smear showed 5% acanthocytes. McLeod syndrome was confirmed by immunohematology. Muscle biopsy revealed neurogenic and myopathic abnormalities with a dystrophinopathy not described in McLeod syndrome so far. [hum-molgen.org]

  McLeod females have only occasional acanthocytes and very mild hemolysis; the lesser severity is thought to be due to X chromosome inactivation via the Lyon effect. [en.wikipedia.org]

  The percentage of acanthocytes is not used as a diagnostic criterion for NA, as it is highly variable and does not correlate with the severity of the disease. The mechanism of acanthocyte formation in chorea-acanthocytosis is unknown. [neurologyindia.com]

  The 'core' neuroacanthocytosis syndromes, in which acanthocytes are a typical feature, are chorea acanthocytosis and McLeod syndrome. [dbpedia.org]

Treatment / Management There is no cure or definitive treatment for several of the neuroacanthocytosis syndromes, such as ChAc and MLS (see Table 5).[12] With the exception of ABL, HHBL, and aceruloplasminemia, the goals of management generally are to [statpearls.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. [brainandlife.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]

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]

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]

However, there is usually no deficiency of beta-lipoprotein in other etiologies. [medlink.com]

Etiology Chorea-acanthocytosis ChAc is caused by mutations in the gene encoding chorein, vacuolar protein sorting 13 homolog A (VPS13A) 5. [radiopaedia.org]

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]

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]

Many of these diseases vary in genetic penetrance and phenotypic manifestations.[3][4][5][6][8][9][10] Epidemiology Each neuroacanthocytosis syndrome is exceedingly rare (see Table 1). [statpearls.com]

[…] as 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, 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]

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]

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]

Examples include HDL2 demonstrating increased reported cases among individuals of African heritage and PKAN occurring more often in small pockets in the Netherlands and the Dominican Republic.[5] Pathophysiology The pathophysiology of these syndromes [statpearls.com]

The clinical similarity of MLS and VPS13A disease has long suggested some shared pathophysiology. [karger.com]

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

Treatment There are currently no treatments to prevent or slow the progression of neuroacanthocytosis and treatment is symptomatic and supportive. [brainandlife.org]

Patients with these syndromes may require involved and prolonged team-based care to improve symptoms and prevent the development of serious medical complications. [statpearls.com]

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]