autosomal recessive spinocerebellar ataxia 13

Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) is a rare genetic neurologic disorder characterized by delayed psychomotor development in infancy, which can range from mild to profound developmental delay [8]. This condition is marked by progressive cerebellar ataxia, with symptoms including:

• Delayed motor and cognitive development beginning in infancy [1]
• Oculomotor signs such as nystagmus, strabismus, ptosis, and hypometric saccades [3]
• Progressive, generalized brain imaging abnormalities [3]

The disorder 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. It is essential to note that SCAR13 is distinct from other types of spinocerebellar ataxia, which are typically autosomal dominant and have different characteristics [6].

In terms of progression, SCAR13 can manifest with a range of symptoms, including:

• Mild to profound developmental delay
• Progressive cerebellar ataxia
• Oculomotor signs

The age of onset for SCAR13 can vary, but it typically begins in childhood, with delayed motor and cognitive development followed by mild progression of cerebellar ataxia [5].

Based on the search results, here are the signs and symptoms associated with autosomal recessive spinocerebellar ataxia (SCA) 13:

• Cerebellar dysfunction: SCA13 is primarily a cerebellar syndrome, which means it affects the part of the brain responsible for coordination and balance. This can lead to difficulties in coordinating movements, including gait and stance ataxia.
• Dysphagia: Affected individuals may experience difficulty swallowing, which can be a concern for their overall health and nutrition.
• Urinary urgency: Some patients with SCA13 may experience increased frequency or urgency of urination.
• Bradykinesia: This refers to slow movement, which can affect daily activities and mobility.
• Epilepsy: Patients with SCA13 may also be prone to seizures, which can impact their quality of life.
• Intellectual disability: In some cases, individuals with SCA13 may experience mildly to profoundly impaired intellectual development, including poor or absent speech.

It's essential to note that the symptoms and signs of SCA13 can vary widely among affected individuals. The progression of the disease is also permanent and progressive, meaning it will continue to worsen over time.

References:

• [4] - SCA13 is primarily a cerebellar syndrome, but dysphagia, urinary urgency, and bradykinesia have been described in affected patients older than 50.
• [5] - Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased reflexes. This cerebellar dysfunction is permanent and progressive.
• [8] - Affected individuals show mildly to profoundly impaired intellectual development with poor or absent speech as well as gait and stance ataxia and hyperreflexia.
• [14] - Autosomal recessive spinocerebellar ataxias, including SCA13, can present with a range of symptoms, including dysphagia, urinary urgency, and bradykinesia.

Autosomal recessive spinocerebellar ataxia 13 (SCAR13) is a rare neurologic disorder characterized by delayed psychomotor development, progressive cerebellar dysfunction, and other symptoms. Diagnostic tests for SCAR13 typically involve genetic testing to confirm the diagnosis.

• Genetic Testing: Genetic testing is used to identify the presence of mutations in the KCNC3 gene, which is associated with SCAR13 [1]. This test can be performed on blood samples or other tissues.
• Magnetic Resonance Imaging (MRI): MRI scans may be conducted to rule out other conditions that could cause similar symptoms. However, MRI findings are not specific for SCAR13 and should be interpreted in conjunction with genetic testing results [2].
• Electrophysiology Studies: Electrophysiology studies, such as electroencephalography (EEG) or electromyography (EMG), may be performed to assess the electrical activity of the brain and muscles. These tests can help identify abnormalities associated with SCAR13.
• Other Diagnostic Tests: Additional diagnostic tests, such as serum markers for genetic ataxias, may also be used to narrow down the potential causative genes [3].

It's essential to consult a medical professional or a genetics specialist for accurate diagnosis and guidance on the most suitable diagnostic tests.

References:

[1] Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation. Am J Hum Genet. 2011; 89 (2):320–7. [PMC free article] [Google Scholar]

[2] Magnetic resonance imaging of the brain is the initial diagnostic test of choice for SCAR13.

[3] Additional ancillary tests listed in Table e1 have diagnostic utility for ataxia, including serum markers of genetic ataxias that can be used to narrow the potential causative genes.

Based on the available information, it appears that there are limited treatment options for autosomal recessive spinocerebellar ataxia (SCA) type 13.

• Currently, there is no U.S. Food and Drug Administration–approved medication for the treatment of SCA [4].
• Treatment aims to relieve symptoms and improve function, but there is no known effective treatment or cure for this condition [5].
• A clinical trial for the drug riluzole was shown to be effective for the symptomatic treatment of several etiologies of autosomal dominant SCA, but its effectiveness in autosomal recessive SCA type 13 is unknown [2].

However, there are some potential therapies that may be considered for the treatment of SCA. These include:

• Medications: While no specific medication has been approved for the treatment of SCA, medications such as riluzole may be considered based on their effectiveness in other forms of SCA [2].
• Botulinum toxin: This may be used to relieve symptoms such as muscle spasms and tremors [1].
• Physical and occupational therapy: These therapies can help improve function and mobility, but they are not a cure for the condition [1].

It's essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance based on individual circumstances.

References:

[1] SD Ghanekar · 2022 · Cited by 28 [2] DD Bushart · 2016 · Cited by 45 [4] by H Sarva · 2014 · Cited by 60

Differential Diagnosis of Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13)

Autosomal recessive spinocerebellar ataxia 13 (SCAR13) is a rare genetic disorder characterized by slowly progressive cerebellar degeneration, leading to ataxia and other neurological symptoms. When considering the differential diagnosis of SCAR13, it's essential to exclude other nongenetic causes of ataxia.

Exclusion of Nongenetic Causes

According to search result [3], exclusion of nongenetic causes of ataxia is crucial in diagnosing SCAR13. This involves ruling out other conditions that may present with similar symptoms, such as:

• Acquired ataxias (e.g.,