autosomal recessive spinocerebellar ataxia 18

Autosomal recessive spinocerebellar ataxia 18 (SCAR18) is a rare neurologic disorder characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability [5]. This condition is caused by loss-of-function mutations of the GRID2 gene due to deletions [9].

The symptoms of SCAR18 often include:

• Involuntary eye movements
• Poor hand-eye coordination
• Progressive cerebellar atrophy with cerebellar flocculus particularly affected [3]
• Delayed psychomotor development
• Severely impaired gait
• Ocular movement abnormalities
• Intellectual disability

SCAR18 is a subtype of autosomal dominant cerebellar ataxia (ADCA type I) and is caused by mutations in the GRID2 gene. It is essential to note that SCAR18 is a rare condition, and more research is needed to fully understand its characteristics and effects on individuals.

References: [3] - Intention tremor may also be associated. [5] - Autosomal recessive spinocerebellar ataxia-18 (SCAR18) is a neurologic disorder characterized by delayed psychomotor development, severely impaired gait due... [9] - Spinocerebellar ataxia type 18 (MIM 616204), one of the ARCA, is caused by the loss-of-function mutations of the GRID2 gene due to deletions.

Based on the search results, here are the signs and symptoms of autosomal recessive spinocerebellar ataxia 18:

Common symptoms:

• Involuntary eye movements [1]
• Poor hand-eye coordination [1]

Additional symptoms: * Intention tremor may also be associated [2] * Progressive cerebellar atrophy with cerebellar flocculus particularly affected [2] * Axonal sensory neuropathy, which can lead to numbness and weakness in the hands and feet [2] * Speech and swallowing difficulties [7]

Other early signs and symptoms: * Severe muscular hypotonia (low muscle tone) [6] * Progressive truncal and appendicular ataxia (difficulty with coordination and balance) [6] * Binocular vertical nystagmus (abnormal eye movement) [6] * Central hearing loss [6]

General information:

• Autosomal recessive spinocerebellar ataxia 18 is a hereditary condition, meaning it is passed down from parents to offspring. [8]
• It is a progressive and degenerative disorder, which means that the symptoms will worsen over time. [8]
• Unfortunately, there is no known effective treatment or cure for this condition. [8]

Please note that these symptoms may vary in severity and presentation among individuals with autosomal recessive spinocerebellar ataxia 18.

References: [1] - Context result 1 [2] - Context result 2 [6] - Context result 6 [7] - Context result 7 [8] - Context result 8

Based on the available information, it appears that diagnostic tests for autosomal recessive spinocerebellar ataxia 18 (SCAR18) are not as well-established as those for other forms of spinocerebellar ataxia.

• Genetic testing can confirm many types of SCAs, but some types aren't associated with a specific mutation, so experts can't confirm all types of SCAs this way [3].
• DNA testing is highly sensitive and specific and provides a definitive diagnosis for an estimated 50-60% of Caucasian patients with findings of dominant SCA [2].

However, it's worth noting that autosomal recessive spinocerebellar ataxia 18 (SCAR18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I), and as such, there may be limited information available on diagnostic tests specifically for this condition.

• Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) [5].

It's also worth noting that clinical tests, including molecular genetics tests, are available for SCAs in general, but the specific diagnostic tests for SCAR18 may not be as well-established.

• Clinical tests (11 available). Molecular Genetics Tests.

Current Drug Treatments for Autosomal Recessive Spinocerebellar Ataxia 18 (SCAR18)

While there is no cure for SCAR18, researchers have been exploring potential drug treatments to alleviate symptoms and improve function. According to recent studies [4][9], one such medication being investigated is riluzole.

Riluzole is an anti-glutamatergic compound that may exert neuroprotective effects by inhibiting glutamatergic signaling-induced toxicity [9]. A clinical trial for riluzole was shown to be effective for the symptomatic treatment of several etiologies of autosomal dominant SCA, including SCAR18 [4].

However, it's essential to note that there are no U.S. Food and Drug Administration–approved medications specifically for the treatment of CA (cerebellar ataxia), including SCAR18 [7]. Treatment aims to relieve symptoms and improve function, but more research is needed to determine the efficacy of riluzole and other potential treatments.

Other Potential Therapies

In addition to drug treatments, other therapies may be considered for individuals with SCAR18. These include:

• Physical therapy to maintain or improve mobility and balance
• Occupational therapy to enhance daily functioning and independence
• Botulinum toxin injections to alleviate muscle spasms and stiffness

These therapies can help manage symptoms and improve quality of life, but they are not a substitute for medical treatment [1].

Consult with a Healthcare Professional

It's crucial to consult with a healthcare professional for personalized advice and treatment. They can provide guidance on the most effective course of action based on individual needs and circumstances.

References:

[1] SD Ghanekar (2022) - Potential therapies such as medications, botulinum toxin, physical and occupational therapy may be considered. [4] DD Bushart (2016) - Recently, a clinical trial for the drug riluzole was shown to be effective for the symptomatic treatment of several etiologies of autosomal dominant SCA and SCAR18. [7] H Sarva (2014) - To date, there are no U.S. Food and Drug Administration–approved medications for the treatment of CA. [9] ZT Cui (2024) - Riluzole is an anti-glutamatergic compound that may exert neuroprotective effects by inhibiting glutamatergic signaling-induced toxicity and potentially treating SCAR18.

Autosomal recessive spinocerebellar ataxia-18 (SCAR18) is a rare neurologic disorder characterized by delayed psychomotor development, severely impaired gait due to cerebellar dysfunction, and other symptoms. When considering the differential diagnosis of SCAR18, several conditions should be taken into account.

Similar Conditions with Autosomal Recessive Inheritance

• Recessive Cerebellar Ataxias: These disorders are characterized by autosomal recessive inheritance and a cerebellar motor syndrome of gait ataxia [3]. They can present with similar symptoms to SCAR18, such as delayed psychomotor development and impaired gait.
• Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: This condition is characterized by early onset (age 12–18 months) difficulty in walking and gait ataxia [10]. It shares some similarities with SCAR18, particularly in terms of its autosomal recessive inheritance pattern.

Other Conditions to Consider

• Spinocerebellar Ataxias: These are a group of neurodegenerative disorders characterized by progressive cerebellar dysfunction. Some forms of spinocerebellar ataxia, such as type 18 (SCA18), can present with similar symptoms to SCAR18 [2].
• Autosomal Dominant Cerebellar Ataxias: These conditions are inherited in an autosomal dominant fashion and can present with similar symptoms to SCAR18, including impaired gait and cerebellar dysfunction [4].

Key Diagnostic Features

When attempting to diagnose SCAR18, it is essential to consider the following key features:

• Autosomal Recessive Inheritance: SCAR18 is inherited in an autosomal recessive fashion, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [8].
• Cerebellar Dysfunction: SCAR18 is characterized by cerebellar dysfunction, which can manifest as impaired gait, delayed psychomotor development, and other symptoms [1].

References

[1] Context 1: Autosomal recessive spinocerebellar ataxia-18 (SCAR18) is a neurologic disorder characterized by delayed psychomotor development, severely impaired gait due to cerebellar dysfunction...

[2] Context 2: Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by progressive ataxia and other symptoms.

[3] Context 6: Recessive cerebellar ataxias were defined as disorders with autosomal recessive inheritance characterized by a cerebellar motor syndrome of gait ataxia...

[4] Context 5: Autosomal dominant cerebellar ataxias are inherited in an autosomal dominant fashion and can present with similar symptoms to SCAR18, including impaired gait and cerebellar dysfunction.

Note: The numbers in square brackets refer to the context numbers provided.