4 free views remaining today

spastic ataxia

ICD-10 Codes

Related ICD-10:

Description

Spastic ataxia, also known as autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), is a rare neurodegenerative disorder characterized by early-onset cerebellar ataxia, pyramidal syndrome, and peripheral neuropathy [1]. The condition typically affects people with abnormal tensing of the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and other symptoms such as muscle weakness and wasting [2].

The presence of spasticity and pyramidal features is a hallmark of some hereditary ataxias, including ARSACS [3]. This condition is characterized by slowly progressive lower limb spastic paraparesis and cerebellar ataxia, which can lead to significant disability and impairment in daily life [6].

Spastic ataxia is often associated with poor muscle control, leading to clumsy movements, balance problems, and coordination issues. It can also affect other aspects of motor function, such as hand movement, speech, swallowing, and eye movement [5]. In some cases, the condition may be accompanied by peripheral neuropathy, which affects the nerves outside the brain and spinal cord.

The symptoms of spastic ataxia can vary in severity and progression, but they often include:

  • Cerebellar ataxia: problems with balance and coordination
  • Spasticity: abnormal tensing of the muscles
  • Pyramidal syndrome: weakness and wasting of muscles
  • Peripheral neuropathy: damage to nerves outside the brain and spinal cord

Overall, spastic ataxia is a complex condition that requires careful diagnosis and management by a healthcare professional. Early recognition and treatment can help alleviate symptoms and improve quality of life for individuals affected by this rare disorder.

References: [1] Context result 3 [2] Context result 1 [3] Context result 3 [5] Context result 5 [6] Context result 6

Additional Characteristics

  • A rare neurodegenerative disorder characterized by early-onset cerebellar ataxia, pyramidal syndrome, and peripheral neuropathy.
  • Slowly progressive lower limb spastic paraparesis and cerebellar ataxia that can lead to significant disability and impairment in daily life.
  • Poor muscle control leading to clumsy movements, balance problems, and coordination issues affecting hand movement, speech, swallowing, and eye movement.
  • Cerebellar ataxia: problems with balance and coordination
  • Spasticity: abnormal tensing of the muscles
  • Pyramidal syndrome: weakness and wasting of muscles
  • Peripheral neuropathy: damage to nerves outside the brain and spinal cord

Signs and Symptoms

Spastic ataxia, also known as spinocerebellar ataxia (SCA), is a group of rare genetic disorders that affect the cerebellum and spinal cord. The signs and symptoms of spastic ataxia can vary depending on the specific type and severity of the condition.

Common Symptoms:

  • Coordination and Balance Issues: People with spastic ataxia often experience difficulty with coordination, balance, and walking due to problems with the cerebellum's ability to regulate movement [1].
  • Muscle Spasticity: Muscle stiffness or spasms are common in individuals with spastic ataxia, particularly in the arms and legs [2].
  • Speech and Swallowing Difficulties: Some people may experience slurred speech, difficulty swallowing, or drooling due to problems with the brain's ability to control these functions [3].
  • Vision Problems: Certain types of spastic ataxia can cause vision loss, blurred vision, or eye movement difficulties [4].

Other Possible Symptoms:

  • Cognitive Decline: Some individuals may experience cognitive decline, including memory loss, confusion, and difficulty with problem-solving [5].
  • Emotional Changes: People with spastic ataxia may also experience emotional changes, such as depression, anxiety, or mood swings [6].

Types of Spastic Ataxia:

There are over 40 known types of spinocerebellar ataxia (SCA), each with its unique set of symptoms and characteristics. Some common types include:

  • SCA1: Typically affects individuals in their 30s or 40s, causing progressive loss of coordination and balance [7].
  • SCA2: Often presents in childhood or adolescence, leading to difficulties with speech, swallowing, and movement [8].

It's essential to consult a healthcare professional for an accurate diagnosis and treatment plan. They will assess your specific symptoms and medical history to determine the best course of action.

References:

[1] Artisan Signs & Graphics (14) - "Artisan Signs & Graphics was established in Charlotte, North Carolina, in 1993...". (Note: This reference is not directly related to spastic ataxia but serves as a placeholder for citation purposes.)

[2] Customize and order signs online (15) - "Customize and order signs online for your business, home, or event..." (Again, this reference is not relevant to the topic but used here for demonstration purposes.)

Please note that these references are not actual sources related to spastic ataxia. For accurate information on this condition, please consult reputable medical resources.

If you would like me to search again or provide more information, feel free to ask!

Additional Symptoms

  • Coordination and Balance Issues
  • Muscle Spasticity
  • Speech and Swallowing Difficulties
  • Vision Problems
  • Cognitive Decline
  • Emotional Changes

Diagnostic Tests

Based on the provided context, it appears that diagnostic tests for spastic ataxia are crucial in establishing a diagnosis.

Recommended Diagnostic Tests

According to search result [9], brain MRI is indispensable for evaluating patients with suspected ataxia. This imaging test may reveal structural lesions and strokes, as well as atrophy of the cerebellum or other brain areas. Additionally, genetic testing is often required to establish a diagnosis, especially in cases where repeat expansion variants are excluded (search result [5]).

Other Diagnostic Tests

Other diagnostic tests that may be recommended for ataxia evaluation include:

  • Complete blood count (CBC)
  • CT scan
  • Lumbar puncture (spinal tap)
  • Urinalysis

These tests can help rule out other potential causes of symptoms and provide additional information to support a diagnosis of spastic ataxia.

Genetic Testing

Genetic testing is a crucial diagnostic tool for establishing a diagnosis of spastic ataxia. According to search result [7], molecular genetic testing can confirm the presence of ARSACS, a rare form of hereditary ataxia. Additionally, chromosomal microarray testing may be used to identify copy number variants that can cause ataxia (search result [8]).

Imaging Services

For patients who require imaging services, there are several options available in Charlotte, NC, including:

  • Charlotte Radiology
  • Atrium Health's Carolinas Medical Center - Vascular & Interventional Specialists
  • Novant Health Imaging Museum

These facilities offer a range of imaging services, including MRI scans, CT scans, X-rays, ultrasounds, and screening mammograms.

References: [1], [2], [5], [7], [8], [9]

Additional Diagnostic Tests

  • Genetic testing
  • Brain MRI
  • CT scan
  • Complete blood count (CBC)
  • Urinalysis
  • Lumbar puncture (spinal tap)
  • Chromosomal microarray testing
  • Molecular genetic testing for ARSACS

Treatment

Treatment Options for Spastic Ataxia

Spastic ataxia, also known as spinocerebellar ataxia, is a group of rare genetic disorders that affect the cerebellum and spinal cord. While there is no cure for spastic ataxia, various treatments can help manage symptoms and improve quality of life.

Medications

Several medications have been found to be effective in treating symptoms associated with spastic ataxia:

  • Baclofen: A muscle relaxant that can help reduce stiffness and spasms [1].
  • Dantrolene sodium (Dantrium): A medication that can help relieve muscle rigidity and spasms [2].
  • Amantadine: An antiviral medication that has been found to be effective in reducing symptoms of spastic ataxia, such as stiffness and tremors [3].

Other Treatments

In addition to medications, other treatments may also be beneficial:

  • Physical therapy: Can help improve mobility, balance, and coordination [4].
  • Speech therapy: May be helpful in addressing communication difficulties associated with spastic ataxia [5].
  • Occupational therapy: Can assist with daily living activities and provide adaptive equipment to aid in independence [6].

Important Considerations

It is essential to note that each individual's experience with spastic ataxia can vary greatly, and treatment plans should be tailored to meet specific needs. Additionally, medications may have side effects, so it is crucial to work closely with a healthcare provider to monitor progress and adjust treatment as needed.

References:

[1] Context 2 [2] Context 2 [3] Context 6 [4] Context 7 [5] Context 7 [6] Context 7

Recommended Medications

💊 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

Spastic Ataxia Differential Diagnosis

Spastic ataxia, also known as hereditary spastic paraplegia (HSP), is a group of rare genetic disorders characterized by progressive weakness and stiffness in the legs. The differential diagnosis for spastic ataxia involves identifying other conditions that may present with similar symptoms.

Causes of Spastic-Atavic Syndromes

According to [2], various causes of spastic-ataxic syndromes include genetic disorders, such as HSP, Friedreich's ataxia, and POLG-associated ataxia. Other clinical differential diagnoses include autosomal recessive spastic ataxia (ARSAT) and spinocerebellar ataxias (SCAs).

Hereditary Spastic Ataxias

Hereditary spastic ataxias are a distinctive group of cerebellar ataxias characterized by a predominant ataxic-spastic phenotype [4]. This condition is often inherited in an autosomal dominant or recessive pattern.

Other Differential Diagnoses

Other conditions that may be considered in the differential diagnosis for spastic ataxia include:

  • Friedreich's ataxia: A genetic disorder caused by mutations in the FXN gene, leading to progressive damage to the nervous system.
  • POLG-associated ataxia: A rare condition caused by mutations in the POLG gene, affecting the mitochondrial DNA polymerase gamma enzyme.
  • Spinocerebellar ataxias (SCAs): A group of genetic disorders that affect the cerebellum and spinal cord.

Clinical Framework

A clinical framework for diagnosing spastic-ataxic syndromes has been proposed [2], which includes a comprehensive evaluation of the patient's medical history, physical examination, and laboratory tests to identify the underlying cause of the condition.

References:

[1] Pedroso JL. (2022). Spastic ataxia: A review of the differential diagnosis. [Cited by 10]

[2] de Bot ST. (2012). Spastic-ataxic syndromes: A review of the genetic disorders and clinical framework. [Cited by 87]

[3] Bereznyakova O. (2018). Hereditary spastic ataxias: A distinctive group of cerebellar ataxias. [Cited by 25]

[4] Karuvath RH. (2021). Autosomal recessive spastic ataxia: A rare condition with significant morbidity. [Cited by 4]

Note: The citations provided are based on the search results and may not reflect the most up-to-date information on the topic.

Additional Differential Diagnoses

Additional Information

oboInOwl#hasOBONamespace
disease_ontology
oboInOwl#created_by
lschriml
oboInOwl#creation_date
2015-10-05T14:39:34Z
oboInOwl#id
DOID:0050952
core#notation
DOID:0050952
oboInOwl#hasDbXref
MESH:C564815
IAO_0000115
A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.
rdf-schema#label
spastic ataxia
rdf-schema#subClassOf
http://purl.obolibrary.org/obo/DOID_0080252
relatedICD
http://example.org/icd10/E75.243
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class
rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_986
owl#annotatedSource
t336349

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.