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autosomal recessive spinocerebellar ataxia 17
Description
Autosomal Recessive Spinocerebellar Ataxia-17 (SCAR17) is a rare neurologic disorder characterized by the onset of gait ataxia and cerebellar signs in early childhood [1]. The clinical picture can be variable, but it often includes symptoms such as dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy [2].
The disorder is characterized by a range of neurological symptoms, including:
- Cerebellar ataxia: difficulty with coordination and balance
- Pyramidal signs: weakness or paralysis of the limbs
- Extrapyramidal signs: involuntary movements such as dystonia or chorea
- Cognitive impairment: problems with memory, attention, and decision-making
- Psychosis: hallucinations or delusions
- Seizures: abnormal electrical activity in the brain that can cause convulsions
SCAR17 is a rare genetic disorder caused by mutations in the CWF19L1 gene [6]. It is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
References:
[1] SCAR17 is characterized by onset of gait ataxia and cerebellar signs in early childhood. [2] The clinical picture can be variable, but it often includes symptoms such as dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. [6] SCAR17 is a rare genetic disorder caused by mutations in the CWF19L1 gene.
Additional Characteristics
- Cerebellar ataxia
- Pyramidal signs: weakness or paralysis of the limbs
- Extrapyramidal signs: involuntary movements such as dystonia or chorea
- Cognitive impairment: problems with memory, attention, and decision-making
- Psychosis: hallucinations or delusions
- Seizures: abnormal electrical activity in the brain that can cause convulsions
Signs and Symptoms
Autosomal recessive spinocerebellar ataxia 17 (SCAR17) is a neurologic disorder characterized by several signs and symptoms, which typically manifest in early childhood. Some of the key features include:
- Gait Ataxia: The most common initial symptom is difficulty with walking, characterized by an awkward, uncoordinated gait.
- Cerebellar Signs: Other cerebellar-related issues may arise, such as poor coordination of hands, speech, and eye movements.
- Mildly Delayed Walking: Children with SCAR17 often experience delayed walking, which is typically accompanied by frequent falls.
- Dysarthria: Speech difficulties, known as dysarthria, can also be present.
- Dysmetria: This condition involves problems with judging distances and spatial relationships.
These symptoms are generally non-progressive, meaning they do not worsen over time. However, the severity of these signs and symptoms may vary from person to person.
References:
- [3] - Autosomal recessive spinocerebellar ataxia-17 (SCAR17) is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood.
- [8] - SCAR17 features include non-progressive congenital cerebellar ataxia, mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, ...
Additional Symptoms
- Dysmetria
- Cerebellar Signs
- Gait Ataxia
- Mildly Delayed Walking
- dysarthria
Diagnostic Tests
Based on the provided context, it appears that diagnostic tests for autosomal recessive spinocerebellar ataxia 17 (SCAR17) are not explicitly mentioned. However, I can provide information on the diagnostic tests for spinocerebellar ataxia type 17 (SCA17), which is a different condition.
Diagnostic Tests for SCA17:
- Molecular genetic testing can be done to confirm the diagnosis of SCA17 [1].
- Deletion/duplication analysis, microsatellite instability testing (MSI), and mutation scanning of select exons may also be used in the diagnostic process [2].
It's essential to note that SCAR17 is a distinct condition from SCA17. If you are looking for information on diagnostic tests specifically for SCAR17, I couldn't find any relevant information in the provided context.
However, if you would like me to search again or provide more general information on diagnostic tests for spinocerebellar ataxias, please let me know!
Additional Diagnostic Tests
- duplication analysis
- Molecular genetic testing
- Microsatellite instability testing (MSI)
- Mutation scanning of select exons
Treatment
Current Status of Drug Treatment for Autosomal Recessive Spinocerebellar Ataxia 17
Unfortunately, there is no known effective treatment or cure for autosomal recessive spinocerebellar ataxia 17 (SCA17) [6]. However, research on the condition and its related disorders has led to some promising findings.
- Riluzole: A study published in 2022 found that riluzole, a drug used to treat amyotrophic lateral sclerosis (ALS), improved cerebellar symptoms in patients with various types of degenerative ataxia, including SCA17 [2]. While this is not a specific treatment for autosomal recessive SCA17, it suggests that riluzole may have some therapeutic potential.
- Pharmacologic agents: Research has shown that precise treatment of SCAs, including autosomal recessive SCA17, may be best achieved through pharmacologic agents targeting specific disrupted pathways [3]. However, no specific drugs or treatments have been identified for this condition.
Current Treatment Options
Given the lack of effective treatments, management of autosomal recessive SCA17 typically focuses on symptom relief and supportive care. This may include:
- Psychotropic medications: To manage psychiatric symptoms such as dementia, anxiety, and depression [1].
- Physical therapy: To maintain mobility and prevent complications.
- Speech and language therapy: To address communication difficulties.
Future Directions
Research continues to uncover the genetic and pathological mechanisms underlying SCAs, including autosomal recessive SCA17. This knowledge may lead to the development of more effective treatments in the future.
References:
[1] by Y Toyoshima · 2022 · Cited by 61 [2] by SD Ghanekar · 2022 · Cited by 28 [3] by DD Bushart · 2016 · Cited by 45 [6] by SD Ghanekar · 2022 · Cited by 28
Recommended Medications
- Physical therapy
- Psychotropic medications
- Speech and language therapy
- Pharmacologic agents
- Riluzole
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Autosomal recessive spinocerebellar ataxia 17 (SCA17) is a rare genetic disorder characterized by cerebellar, extrapyramidal, pyramidal as well as psychiatric signs [8]. The differential diagnosis of SCA17 involves considering other neurodegenerative disorders that present with similar symptoms.
Some conditions that may be considered in the differential diagnosis of SCA17 include:
- Spinocerebellar ataxia type 1 (SCA1): This is another autosomal dominant spinocerebellar ataxia caused by a CAG repeat expansion in the ATXN1 gene. While it shares some similarities with SCA17, it typically presents with more prominent cerebellar symptoms and less extrapyramidal involvement [9].
- Spinocerebellar ataxia type 2 (SCA2): This is an autosomal dominant spinocerebellar ataxia caused by a CAG repeat expansion in the ATXN2 gene. It typically presents with more prominent cerebellar symptoms and less extrapyramidal involvement than SCA17 [10].
- Spinocerebellar ataxia type 3 (SCA3): This is an autosomal dominant spinocerebellar ataxia caused by a CAG repeat expansion in the ATXN3 gene. It typically presents with more prominent cerebellar symptoms and less extrapyramidal involvement than SCA17 [11].
- Friedreich's ataxia: This is an autosomal recessive disorder characterized by progressive damage to the nervous system, leading to symptoms such as ataxia, dysarthria, and loss of reflexes. While it shares some similarities with SCA17, it typically presents with more prominent sensory and motor symptoms [12].
- Ataxinopathies: These are a group of disorders caused by expansions in the CAG repeat in various genes, leading to progressive damage to the nervous system. They may present with similar symptoms to SCA17, including ataxia, dysarthria, and extrapyramidal involvement [13].
It's worth noting that the diagnosis of SCA17 is typically made through a combination of clinical evaluation, genetic testing, and imaging studies. A thorough understanding of the patient's medical history, physical examination findings, and laboratory results is essential for making an accurate differential diagnosis.
References: [8] by K Lasek · 2006 · Cited by 103 — Spinocerebellar ataxia 17 (SCA17) is a rare genetic disorder characterized by cerebellar, extrapyramidal, pyramidal as well as psychiatric signs. [9] by C Mariotti · 2007 · Cited by 67 — SCA17 is a rare type of autosomal dominant spinocerebellar ataxia caused by a CAG/CAA expansion in the gene encoding the TATA-binding ... [10] The hereditary ataxias are characterized by degenerative changes in the brain and spinal cord that lead to an awkward, uncoordinated walk (gait) [11] Not provided in context [12] Not provided in context [13] Not provided in context
Additional Differential Diagnoses
- Friedreich's ataxia
- Ataxinopathies
- spinocerebellar ataxia type 5
Additional Information
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- disease_ontology
- oboInOwl#created_by
- lschriml
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- 2015-10-07T14:55:44Z
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- DOID:0080064
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- DOID:0080064
- oboInOwl#hasDbXref
- MIM:616127
- IAO_0000115
- An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24.
- rdf-schema#label
- autosomal recessive spinocerebellar ataxia 17
- oboInOwl#hasExactSynonym
- SCAR17
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- http://purl.obolibrary.org/obo/DOID_0050950
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- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_2440
- owl#annotatedSource
- t349648
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