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Inclusion Criteria
- Episodic disorder that often causes a combination of ataxia with walking problems, abnormal extra movements, stiff legs, weakness, headache and nausea. - Episodes lasting a few minutes or hours. - There may be a dystonic component and some patients are exhausted for many hours afterwards. - Attacks are not always the same, even with the same genetic defect. - Arms can be affected like legs - Migraine type headaches are frequently associated as is dysarthria - Some patients have a primary headache in the form of hemiplegic migraine (FHM), cluster headache, SUNCT or SUNA - MRI brain and cord to exclude common causes such as tumours, discs, demyelinating causes - Family history of often present in AD or AR forms, X linked pattern rare - Often drugs such as Lamotrigine or acetazolamide are effective Individuals with severe or syndromic disease should be recruited according to standard guidance, typically as trios. Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease. In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.
Exclusion Criteria
Prior Genetic Testing
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. - Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing. PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Genes
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: - KCNA1, PRRT2 as appropriate - CACNA1A (only in dominant, long duration episodic ataxia)
Closing Statement
These requirements will be kept under continual review during the main programme and may be subject to change.
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Episodic ataxia
Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.
Headache
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Comment: Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition.
Cluster headache
A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs. Comment: According to the International Classification of Headache Disorders (ICHD-II), the diagnosis of cluster headache can be made with at least five attacks fulfilling criteria B-D: B) Severe or very severe unilateral orbital, supraorbital and/or temporal pain lasting 15-180 minutes if untreated. C) Headache is accompanied by at least 1 of the following: (i) Ipsilateral conjunctival injection and/or lacrimation. (ii) Ipsilateral nasal congestion and/or rhinorrhea. (iii) Ipsilateral eyelid edema. (iv) Ipsilateral forehead and facial sweating. (v) Ipsilateral miosis and/or ptosis. (vi) A sense of restlessness or agitation. D) Attacks have a frequency from 1 every other day to 8/day. Additionally, the headaches cannot attributed to another disorder.
Migraine
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Trigeminal neuralgia
A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected.
Nausea
A sensation of unease in the stomach together with an urge to vomit.
Postural instability
Abnormality of eye movement
An abnormality in voluntary or involuntary eye movements or their control.
Difficulty walking
Reduced ability to walk (ambulate).
Abnormality of movement
An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. Comment: Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy.
Dystonia
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Dysarthria
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
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- General Imaging Diagnostics
General imaging diagnostics report to capture reports that aren't included in the specific subclasses. Inherits all the elements in the abstract Imaging Diagnostics class and the abstract Investigation Class.
- General Imaging Diagnostics