What are the symptoms? behaviour changesinvoluntary movements: – chorea – irregular dancing movements – dystonia – more sustained movements with posturing of the limbs, trunk, neck, face – tics. Parkinsonism – slowed movements and stiffness of limbsimpaired swallowing with weight losslip and tongue bitingdifficulty with speechseizures in about halfperipheral neuropathyenlargement of liver and spleen. What are the causes? Mutations in the VPS13A gene on chromosome 9q21. How is it diagnosed? Chorea-acanthocytosis is diagnosed when the typical features are seen, especially facial movements with lip and tongue biting. Not all have acanthocytes, but most will have increased creatine phosphokinase. The diagnosis is made by looking for the affected protein, chorein. One lab in Munich performs clinical tests of VPS13A, but some other labs do this on a research basis. How is it treated? Chorea-acanthocytosis cannot be cured. Treatment is directed at specific symptoms. Inheritance patterns and prenatal diagnosis Inheritance patternsAutosomal recessive. Prenatal diagnosisThis may be possible in families already known to be affected. Affected families should be referred to their genetics service for further information and support. Is there support? Advocacy for Neuroacanthocytosis Patients Tel: 020 7460 8874Email: ginger@naadvocacy.orgWebsite: naadvocacy.org The Group is a Registered Charity in England and Wales No. 1133182. It provides information and support to neuroacanthocytosis patients and develops research aimed at alleviation of the disease. The Group has an online forum, and patient advocates who are actively in contact with patients and their families. Group details last updated September 2017. Information and support in the UK for families of children with Hallervordern-Spatz syndrome (pantothenate kinase-associated neurodegeneration) is provided by Climb (see entry Inherited Metabolic diseases).
What are the symptoms? behaviour changesinvoluntary movements: – chorea – irregular dancing movements – dystonia – more sustained movements with posturing of the limbs, trunk, neck, face – tics. Parkinsonism – slowed movements and stiffness of limbsimpaired swallowing with weight losslip and tongue bitingdifficulty with speechseizures in about halfperipheral neuropathyenlargement of liver and spleen.
How is it diagnosed? Chorea-acanthocytosis is diagnosed when the typical features are seen, especially facial movements with lip and tongue biting. Not all have acanthocytes, but most will have increased creatine phosphokinase. The diagnosis is made by looking for the affected protein, chorein. One lab in Munich performs clinical tests of VPS13A, but some other labs do this on a research basis.
How is it treated? Chorea-acanthocytosis cannot be cured. Treatment is directed at specific symptoms.
Inheritance patterns and prenatal diagnosis Inheritance patternsAutosomal recessive. Prenatal diagnosisThis may be possible in families already known to be affected. Affected families should be referred to their genetics service for further information and support.
Is there support? Advocacy for Neuroacanthocytosis Patients Tel: 020 7460 8874Email: ginger@naadvocacy.orgWebsite: naadvocacy.org The Group is a Registered Charity in England and Wales No. 1133182. It provides information and support to neuroacanthocytosis patients and develops research aimed at alleviation of the disease. The Group has an online forum, and patient advocates who are actively in contact with patients and their families. Group details last updated September 2017. Information and support in the UK for families of children with Hallervordern-Spatz syndrome (pantothenate kinase-associated neurodegeneration) is provided by Climb (see entry Inherited Metabolic diseases).
What are the symptoms? involuntary movements of the limbs, trunk, neck, face (lip and tongue biting are not typical) Parkinsonismnerve and muscle involvementheart problemsenlarged liver and spleenmental health problems in about 20%seizures in about 40% What are the causes? McLeod syndrome is caused by mutations of the XK gene on the X-chromosome. How is it diagnosed? By looking for the McLeod blood group phenotype (due to proteins on the red blood cells); confirmed by genetic analysis. How is it treated? McLeod syndrome cannot be cured. Medications are given as needed for specific symptoms. Care must be taken if repeated blood transfusions are needed, as transfusion reactions can occur. Banking of the patient’s own blood is recommended. Inheritance patterns and prenatal diagnosis Inheritance patternsX-linked recessive. Prenatal diagnosisThis may be possible in families already known to be affected. Affected families should be referred to their genetics service for further information and support. Is there support? Advocacy for Neuroacanthocytosis Patients Tel: 020 7460 8874Email: ginger@naadvocacy.orgWebsite: naadvocacy.org The Group is a Registered Charity in England and Wales No. 1133182. It provides information and support to neuroacanthocytosis patients and develops research aimed at alleviation of the disease. The Group has an online forum, and patient advocates who are actively in contact with patients and their families. Group details last updated September 2017. Information and support in the UK for families of children with Hallervordern-Spatz syndrome (pantothenate kinase-associated neurodegeneration) is provided by Climb (see entry Inherited Metabolic diseases).
What are the symptoms? involuntary movements of the limbs, trunk, neck, face (lip and tongue biting are not typical) Parkinsonismnerve and muscle involvementheart problemsenlarged liver and spleenmental health problems in about 20%seizures in about 40%
How is it diagnosed? By looking for the McLeod blood group phenotype (due to proteins on the red blood cells); confirmed by genetic analysis.
How is it treated? McLeod syndrome cannot be cured. Medications are given as needed for specific symptoms. Care must be taken if repeated blood transfusions are needed, as transfusion reactions can occur. Banking of the patient’s own blood is recommended.
Inheritance patterns and prenatal diagnosis Inheritance patternsX-linked recessive. Prenatal diagnosisThis may be possible in families already known to be affected. Affected families should be referred to their genetics service for further information and support.
Is there support? Advocacy for Neuroacanthocytosis Patients Tel: 020 7460 8874Email: ginger@naadvocacy.orgWebsite: naadvocacy.org The Group is a Registered Charity in England and Wales No. 1133182. It provides information and support to neuroacanthocytosis patients and develops research aimed at alleviation of the disease. The Group has an online forum, and patient advocates who are actively in contact with patients and their families. Group details last updated September 2017. Information and support in the UK for families of children with Hallervordern-Spatz syndrome (pantothenate kinase-associated neurodegeneration) is provided by Climb (see entry Inherited Metabolic diseases).