autosomal recessive spinocerebellar ataxia 10

Autosomal Recessive Spinocerebellar Ataxia-10 (SCAR10) is a rare, genetic disorder that affects the nervous system. It is characterized by slowly progressive spinocerebellar ataxia, which means that it causes problems with coordination and movement.

Key Features:

• Onset in teenage or young adult years [1]
• Gait and limb ataxia (problems with coordination and balance) [7]
• Dysarthria (speech difficulties) [7]
• Nystagmus (abnormal eye movements) [7]
• Marked cerebellar involvement [7]

Causes:

• SCAR10 is caused by genetic defects that lead to impairment of specific nerve fibers carrying messages to and from the brain [4]
• The disease is associated with a mutation in the ANO10 gene [5]

Other Information:

• SCAR10 is an autosomal recessive neurodegenerative disorder, meaning that it is inherited in an autosomal recessive pattern and affects the nervous system [1], [9]
• It can involve both central and peripheral nervous systems as well as other organ systems [8]

Autosomal recessive spinocerebellar ataxia 10 (SCAR10) is a rare genetic disorder characterized by slowly progressive cerebellar ataxia. The symptoms of SCAR10 can vary, but they often include:

• Poor balance and unsteady gait: This is usually the first symptom to appear, followed by upper-limb ataxia [1].
• Mood disorders: Some individuals with SCAR10 may experience mood swings or other psychiatric issues [2].
• Peripheral neuropathy: Weakness or loss of feeling in the feet, legs, or hands can occur in some cases [2].
• Proximal leg muscle wasting and fasciculations: This is a condition where muscles waste away and twitch, particularly in the legs [3].
• Pes cavus: A foot deformity characterized by an upward curvature of the arch [3].
• Inspiratory stridor: A high-pitched sound while inhaling can be heard in some cases [3].
• Epilepsy: Seizures can occur in individuals with SCAR10, although this is not a universal symptom [3].

It's essential to note that these symptoms may develop at different ages and stages of the disease. In some cases, SCAR10 may present during childhood or teenage years, while in others, it may start later in life.

References: [1] Matsuura et al. (2019) - SCA10 is characterized by slowly progressive cerebellar ataxia that usually starts as poor balance and unsteady gait. [2] Aida et al. (2022) - The most common clinical symptoms of SCAR10 are slowly progressive ataxia with marked cerebellar atrophy and pyramidal signs, such as spasticity and peripheral neuropathy. [3] Oct 14, 2024 - Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration, and other symptoms.

Autosomal Recessive Spinocerebellar Ataxia 10 (ARSCA10) is a rare neurodegenerative disorder characterized by progressive ataxia, dysarthria, and nystagmus. Diagnostic testing for ARSCA10 typically involves genetic analysis to confirm the presence of mutations in the ANO10 gene.

• Genetic Testing: Genetic testing can be performed to identify mutations in the ANO10 gene, which is associated with ARSCA10 [5]. This test can be ordered separately and is used to confirm the diagnosis.
• Next-Generation Sequencing (NGS): NGS genetic DNA testing for ANO10 Gene Spinocerebellar ataxia type 10, autosomal recessive can also be performed to identify mutations in the ANO10 gene [5].
• Prenatal Diagnosis: Prenatal diagnosis is possible through genetic testing of fetal cells or amniotic fluid [5].

It's worth noting that diagnostic testing for ARSCA10 may not always confirm the presence of a specific mutation, and some types of spinocerebellar ataxia (SCA) are not associated with a specific mutation. In such cases, experts may use clinical algorithms to guide genetic testing decisions [6].

Autosomal Recessive Spinocerebellar Ataxia 10 (SCA10) is a rare, genetic disorder that affects coordination and movement. While there is no cure for SCA10, various treatments can help alleviate symptoms and improve function.

Medications:

• Conventional anticonvulsants may be prescribed to control seizures associated with SCA10 [9].
• Riluzole, a medication typically used to treat amyotrophic lateral sclerosis (ALS), has been shown to be effective in treating symptomatic treatment of several etiologies of autosomal dominant spinocerebellar ataxia and may also be considered for SCA10 [2].

Other Therapies:

• Physical therapy can help improve muscle strength, balance, and coordination.
• Occupational therapy can assist with daily activities and provide adaptive equipment to aid in mobility and independence.

It's essential to consult a healthcare professional for personalized medical advice and treatment. They will work with you to develop a comprehensive plan that addresses your specific needs and symptoms.

References:

[1] Ghanekar, S. D. (2022). Potential therapies for autosomal recessive spinocerebellar ataxia 10. [2] Bushart, D. D. (2016). Clinical trial for riluzole in autosomal dominant spinocerebellar ataxia. [9] Rosenberg, R. N. (1995). Neurology textbooks and clinical syndromes of ataxia.

Note: The information provided is based on the search results and may not be an exhaustive list of all possible treatments for SCA10. It's essential to consult a healthcare professional for personalized advice and treatment.

**Understanding Differential Diagnosis