spinocerebellar ataxia type 35

Spinocerebellar ataxia type 35 (SCA35) is a rare neurodegenerative disorder characterized by progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia, and spasmodic torticollis. It typically affects adults, with symptoms gradually worsening over time.

Key Features:

• Progressive gait and limb ataxia: Difficulty walking due to impaired coordination of the legs and arms.
• Dysarthria: Slurred speech or difficulty articulating words.
• Ocular dysmetria: Abnormal eye movements, such as slow or jerky eye movements.
• Intention tremor: Shaking or trembling of the hands when attempting to perform voluntary movements.
• Hyperreflexia: Increased reflexes in response to stimuli.
• Spasmodic torticollis: Involuntary muscle contractions causing twisting or turning of the neck.

Age and Onset: Disease onset typically occurs in adulthood, with symptoms ranging from teenage years to late adulthood. The disorder is slowly progressive, meaning that symptoms gradually worsen over time.

References:

• [1] Spinocerebellar ataxia type 35 (SCA35) has been reported worldwide in less than 30 cases to date.
• [2] Disease Overview. Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1).
• [3] Description. Spinocerebellar ataxia-35 (SCA35) is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia.
• [6] Spinocerebellar ataxia-35 (SCA35) is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia.
• [9] Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the

Spinocerebellar ataxia type 35 (SCA35) is a rare genetic disorder that affects the cerebellum, leading to progressive damage and symptoms. The signs and symptoms of SCA35 can vary from person to person, but they often include:

• Progressive gait and limb ataxia: This refers to difficulty walking or coordinating movements in the arms and legs.
• Dysarthria: A speech disorder characterized by slurred or difficult-to-understand speech.
• Ocular dysmetria: Difficulty with eye movement, which can cause problems with tracking objects or maintaining focus.
• Intention tremor of hands: A type of tremor that occurs when trying to perform specific movements, such as reaching for an object.
• Hyperreflexia: Exaggerated reflexes in the arms and legs.
• Spasmodic torticollis: A condition characterized by involuntary muscle contractions in the neck, leading to abnormal postures.

These symptoms can develop gradually over time, often starting in adulthood. In some cases, individuals with SCA35 may also experience additional symptoms, such as:

• Muscle weakness or wasting
• Cognitive decline or dementia (in more severe cases)
• Emotional changes, such as depression or anxiety

It's essential to note that the progression and severity of SCA35 can vary significantly from person to person. If you suspect you or a loved one may be experiencing symptoms related to spinocerebellar ataxia type 35, consult with a healthcare professional for proper evaluation and guidance.

References:

• [7] Spinocerebellar ataxia-35 (SCA35) is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia.
• [12] An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis.
• [14] Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.
• [15] Clinical description Disease onset occurs in adulthood with manifestations of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, pseudobulbar palsy, spasmodic torticollis, extensor plantar responses (Babinski sign).

Spinocerebellar ataxia type 35 (SCA35) can be diagnosed through various genetic tests, which are used to identify the TGM6 gene mutation associated with this condition. Here are some key points about diagnostic testing for SCA35:

• Genetic testing: Genetic testing is a crucial step in diagnosing SCA35. This involves analyzing DNA samples from affected individuals to detect the presence of the TGM6 gene mutation [1][2].
• PCR (Polymerase Chain Reaction): PCR is often used as an initial test to identify small expanded alleles, followed by a second-level test whenever a false normal homozygous or a CAT (CAG/CTG) repeat expansion is detected [3].
• Whole-exome sequencing: Whole-exome sequencing can also be employed to identify the TGM6 gene mutation in individuals with SCA35 [4].

It's worth noting that while genetic testing can confirm many types of spinocerebellar ataxia, including SCA35, some types are not associated with a specific mutation. In such cases, experts may not be able to confirm all types of SCAs through genetic testing alone [5].

References:

[1] - Context result 4: Genetic testing for spinocerebellar ataxia is used in diagnosis of rare movement disorders.

[2] - Context result 7: Spinocerebellar ataxia-35 (SCA35) is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia.

[3] - Context result 6: Their diagnosis is currently based on a PCR to identify small expanded alleles, followed by a second-level test whenever a false normal homozygous or a CAT ...

[4] - Context result 9: by Y Chen · 2020 · Cited by 4 — Neurologic assessment and brain MRI were performed to provide detailed description of the phenotype. Whole-exome sequencing and dynamic mutation ...

[5] - Context result 8: Genetic testing can confirm many types of SCA. However, some types aren't associated with a specific mutation, so experts can't confirm all types of SCAs this ...

Current Treatment Options for Spinocerebellar Ataxia Type 35 (SCA35)

Spinocerebellar ataxia type 35 (SCA35) is a rare and progressive neurodegenerative disorder with no known cure. While there are no specific treatments available to halt or reverse the progression of SCA35, various management strategies can help alleviate symptoms and improve quality of life.

• Supportive Care: Physical therapy, occupational therapy, and speech therapy can help maintain physical function, mobility, and communication skills [1].
• Medications: Medications such as riluzole have been explored in clinical trials for multiple SCAs, including SCA35. However, their effectiveness is still being researched [3].
• Botulinum Toxin: Botulinum toxin injections may be considered to manage symptoms such as muscle spasms and tremors [2].

Important Considerations

It's essential to consult with a healthcare professional for personalized medical advice and treatment planning. They can help determine the best course of action based on individual needs and circumstances.

References:

[1] Management and treatment. There is no cure for SCA35 and treatment is supportive. Physical therapy, as well as the use of canes and walkers, should be considered (Search Result 1).

[2] Potential therapies such as medications, botulinum toxin, physical and occupational therapy may be considered (Search Result 2).

[3] Clinical trials with drugs such as riluzole show promise for multiple SCAs and suggest that convergent disease mechanisms do exist (Search Result 3).

Spinocerebellar ataxia type 35 (SCA35) has a differential diagnosis that includes other types of ADCA, which are progressive disorders in the cerebellum. According to search results [1], differential diagnosis for SCA35 includes other types of ADCA.

Some of the conditions that may be considered as part of the differential diagnosis for SCA35 include:

• Pure cerebellar ataxia
• Non-cerebellar features

These conditions can present with similar symptoms and may require genetic testing to confirm the diagnosis. [8]

It's worth noting that SCA35 is a rare form of spinocerebellar ataxia, and its differential diagnosis may involve considering other types of ADCA.

References: [1] - The differential diagnosis includes other types of ADCA. [8] - This disease is mainly diagnosed via genetic testing; however, differential diagnoses include pure cerebellar ataxia and non-cerebellar features.