McLeod syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = McLeod syndrome | |||
| image = [[File:X-linked_recessive.svg|200px]] | |||
| caption = McLeod syndrome is inherited in an [[X-linked recessive]] manner | |||
| synonyms = McLeod neuroacanthocytosis syndrome | |||
| specialty = [[Neurology]], [[Hematology]] | |||
| symptoms = [[Chorea]], [[seizures]], [[peripheral neuropathy]], [[cardiomyopathy]], [[muscle weakness]], [[cognitive impairment]] | |||
| onset = Typically in [[adulthood]] | |||
| duration = [[Chronic (medicine)|Chronic]] | |||
| causes = Mutations in the [[XK (gene)|XK gene]] | |||
| risks = Male [[sex]] (due to X-linked inheritance) | |||
| diagnosis = [[Genetic testing]], [[blood test]] | |||
| differential = [[Huntington's disease]], other [[neuroacanthocytosis]] syndromes | |||
| treatment = [[Symptomatic treatment]], [[physical therapy]], [[speech therapy]] | |||
| prognosis = [[Progressive disease|Progressive]] | |||
| frequency = Rare | |||
}} | |||
'''McLeod syndrome''' is a rare, X-linked, neuroacanthocytosis syndrome characterized by abnormalities in the [[neurological system]], [[blood]] and [[muscles]]. The syndrome is named after the [[geneticist]] who first described it, Dr. K.B. McLeod. | '''McLeod syndrome''' is a rare, X-linked, neuroacanthocytosis syndrome characterized by abnormalities in the [[neurological system]], [[blood]] and [[muscles]]. The syndrome is named after the [[geneticist]] who first described it, Dr. K.B. McLeod. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The symptoms of McLeod syndrome can vary greatly from person to person. Some of the most common symptoms include: | The symptoms of McLeod syndrome can vary greatly from person to person. Some of the most common symptoms include: | ||
* [[Peripheral neuropathy]] | * [[Peripheral neuropathy]] | ||
* [[Muscle weakness]] | * [[Muscle weakness]] | ||
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* [[Cardiomyopathy]] (disease of the heart muscle) | * [[Cardiomyopathy]] (disease of the heart muscle) | ||
* [[Hemolysis]] (breakdown of red blood cells) | * [[Hemolysis]] (breakdown of red blood cells) | ||
== Causes == | == Causes == | ||
McLeod syndrome is caused by mutations in the XK gene. This gene provides instructions for making a protein that is part of the Kell complex, a group of proteins that reside on the surface of red blood cells. The Kell complex plays a role in maintaining the structure and function of red blood cells. | McLeod syndrome is caused by mutations in the XK gene. This gene provides instructions for making a protein that is part of the Kell complex, a group of proteins that reside on the surface of red blood cells. The Kell complex plays a role in maintaining the structure and function of red blood cells. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of McLeod syndrome is based on the presence of characteristic clinical findings, specialized laboratory testing, and molecular genetic testing. | Diagnosis of McLeod syndrome is based on the presence of characteristic clinical findings, specialized laboratory testing, and molecular genetic testing. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for McLeod syndrome. Treatment is symptomatic and supportive, and may include medications to manage chorea and psychiatric symptoms, physical therapy to help with muscle weakness and atrophy, and regular monitoring for heart disease. | There is currently no cure for McLeod syndrome. Treatment is symptomatic and supportive, and may include medications to manage chorea and psychiatric symptoms, physical therapy to help with muscle weakness and atrophy, and regular monitoring for heart disease. | ||
== See also == | == See also == | ||
* [[Neuroacanthocytosis]] | * [[Neuroacanthocytosis]] | ||
* [[Chorea]] | * [[Chorea]] | ||
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* [[Hemolysis]] | * [[Hemolysis]] | ||
* [[Peripheral neuropathy]] | * [[Peripheral neuropathy]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
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[[Category:Blood disorders]] | [[Category:Blood disorders]] | ||
[[Category:Muscular disorders]] | [[Category:Muscular disorders]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 21:42, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| McLeod syndrome | |
|---|---|
| |
| Synonyms | McLeod neuroacanthocytosis syndrome |
| Pronounce | N/A |
| Specialty | Neurology, Hematology |
| Symptoms | Chorea, seizures, peripheral neuropathy, cardiomyopathy, muscle weakness, cognitive impairment |
| Complications | N/A |
| Onset | Typically in adulthood |
| Duration | Chronic |
| Types | N/A |
| Causes | Mutations in the XK gene |
| Risks | Male sex (due to X-linked inheritance) |
| Diagnosis | Genetic testing, blood test |
| Differential diagnosis | Huntington's disease, other neuroacanthocytosis syndromes |
| Prevention | N/A |
| Treatment | Symptomatic treatment, physical therapy, speech therapy |
| Medication | N/A |
| Prognosis | Progressive |
| Frequency | Rare |
| Deaths | N/A |
McLeod syndrome is a rare, X-linked, neuroacanthocytosis syndrome characterized by abnormalities in the neurological system, blood and muscles. The syndrome is named after the geneticist who first described it, Dr. K.B. McLeod.
Symptoms and Signs[edit]
The symptoms of McLeod syndrome can vary greatly from person to person. Some of the most common symptoms include:
- Peripheral neuropathy
- Muscle weakness
- Muscle atrophy
- Chorea (involuntary, rapid, jerky movements)
- Psychiatric disorders
- Cardiomyopathy (disease of the heart muscle)
- Hemolysis (breakdown of red blood cells)
Causes[edit]
McLeod syndrome is caused by mutations in the XK gene. This gene provides instructions for making a protein that is part of the Kell complex, a group of proteins that reside on the surface of red blood cells. The Kell complex plays a role in maintaining the structure and function of red blood cells.
Diagnosis[edit]
Diagnosis of McLeod syndrome is based on the presence of characteristic clinical findings, specialized laboratory testing, and molecular genetic testing.
Treatment[edit]
There is currently no cure for McLeod syndrome. Treatment is symptomatic and supportive, and may include medications to manage chorea and psychiatric symptoms, physical therapy to help with muscle weakness and atrophy, and regular monitoring for heart disease.
See also[edit]
References[edit]
<references />
