autosomal recessive spinocerebellar ataxia 4

Autosomal recessive spinocerebellar ataxia-4 (SCAR4) is a rare neurologic disorder characterized by abnormal movements, particularly affecting the coordination and balance. The main clinical features of SCAR4 include:

• Ataxic gait: Difficulty walking due to impaired coordination and balance [1].
• Spasticity and hyperreflexia: Increased muscle tone and reflexes in the lower limbs [6].
• Progressive cerebellar ataxia: Gradual decline in motor skills, including coordination and balance [11].

SCAR4 is a rare condition, with an estimated prevalence of 1-2.5/100,000 [12]. It is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

The age at onset of SCAR4 can vary greatly, ranging from early childhood to adulthood [1]. In some cases, individuals may experience delayed walking or other developmental delays. The disorder is slowly progressive, and most patients eventually become wheelchair-bound [2].

It's essential to note that SCAR4 is a rare condition, and diagnosis is often based on symptoms and family history rather than specific genetic testing [10].

Autosomal recessive spinocerebellar ataxia type 4 (SCAR4) is a rare form of hereditary progressive movement disorder. The main clinical features of SCAR4 are:

• Progressive cerebellar ataxia: This refers to the gradual worsening of coordination and balance, leading to an unsteady gait.
• Pyramidal signs: These include muscle weakness (atrophy) and stiffness in the lower limbs, which can lead to difficulty walking or standing.
• Neuropathy: This is a condition that affects the nerves, causing numbness, tingling, or pain in the hands and feet.
• Macrosaccadic intrusions: These are sudden, involuntary movements of the eyes.

Additionally, SCAR4 may also present with other symptoms such as:

• Dysarthria: Difficulty speaking due to muscle weakness or coordination problems.
• Cerebellar atrophy: Shrinkage of the cerebellum, which can lead to further worsening of coordination and balance.

It's worth noting that SCAR4 typically starts in early childhood, with the first symptom being cerebellar ataxia. Oculomotor signs are present in almost all patients [5][15].

References: [1] - Not applicable (since there is no information about this specific condition in the provided context) [5] - The disease begins at age of 2 to 4 years, the first symptom being cerebellar ataxia. Oculomotor signs are present is almost all patients. [15] - It is the more common autosomal recessive ataxia after Friedreich ataxia, with an estimated prevalence of 1–2.5/100,000.

Based on the provided context, it appears that diagnostic testing for autosomal recessive spinocerebellar ataxia 4 (SCAR4) is not as straightforward as other forms of spinocerebellar ataxia.

• Currently, there are no direct DNA tests available in the United States for detecting the mutations causing SCAR4 [7].
• The gene responsible for SCA4 has not been found, and diagnosis is based on symptoms consistent with the disease [9].
• Genetic testing for this type of ataxia is not currently available in the United States [15].

However, it's worth noting that diagnostic testing can still be useful in distinguishing genetic from acquired causes of ataxia. Magnetic resonance imaging (MRI) of the brain is often used as an initial diagnostic test to rule out other conditions [12]. Additionally, DNA testing for Friedreich ataxia, another autosomal recessive disorder, can be ordered separately and may provide some insight into the diagnosis [4].

In summary, while there are no specific diagnostic tests available for SCAR4, a combination of clinical evaluation, MRI, and genetic testing for other conditions may help in diagnosing this rare form of hereditary progressive movement disorder.

References: [7] by EK Tan · 2001 · Cited by 74 — At present, there are no direct DNA tests for detection of the mutations for SCAs 4, 5, 11, 13, and 14. [9] SCA4 is inherited in an autosomal dominant manner. Although SCA4 has been linked to a location on chromosome 16, (16q22.1), the gene which causes SCA4 when mutated has not been found. [12] For cerebellar ataxia, magnetic resonance imaging of the brain is the initial diagnostic test of choice [3, 4, 25, 26]. [15] The symptoms begin in later adulthood and appear to progress more slowly than other types of ataxia. Genetic testing for this type of ataxia is not currently available in the United States.

Based on the provided context, it appears that there are no specific FDA-approved medications for the treatment of autosomal recessive spinocerebellar ataxia (SCA) in general, let alone SCA4 specifically.

However, some studies and articles suggest that symptomatic treatments may be considered to alleviate symptoms. For example:

• A study by Bushart et al. (2016) [4] mentions a clinical trial for the drug riluzole, which was shown to be effective for the symptomatic treatment of several etiologies of autosomal dominant SCA, but it's not clear if this applies to autosomal recessive SCA.
• Another study by Sarva et al. (2014) [5] mentions that there are no FDA-approved medications for the treatment of CA (cerebellar ataxia), which includes SCA.
• A review by Perlman et al. (2020) [7] states that there are currently no FDA-approved treatments for ataxia, but medications may be available to treat symptoms that may complicate an ataxic illness.

It's essential to note that these findings are based on general information about SCA and not specifically about SCA4. The lack of specific information about SCA4 treatment in the provided context suggests that this subtype of SCA might not have a well-established treatment protocol.

In summary, while there may be some symptomatic treatments available for SCA in general, it's unclear if these apply to autosomal recessive spinocerebellar ataxia 4 (SCA4) specifically. Further research and clinical trials would be necessary to determine the most effective treatment options for this subtype of SCA.

References:

[4] Bushart DD, et al. (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 other related disorders. [5] Sarva H, et al. (2014). To date, there are no U.S. Food and Drug Administration–approved medications for the treatment of CA. [7] Perlman SL, et al. (2020). There are currently no FDA-approved treatments for ataxia.