spinocerebellar ataxia type 37

Spinocerebellar ataxia type 37 (SCA37) is a rare genetic disorder that affects the cerebellum, leading to progressive damage and impaired motor coordination. The condition typically presents in adulthood, with symptoms including:

• Slowly progressive gait and limb ataxia
• Severe dysmetria in the lower extremities
• Mild dysmetria in the upper extremities
• Dysphagia (difficulty swallowing)
• Abnormal ocular movements, specifically dysmetric vertical saccades

SCA37 is an autosomal dominant form of spinocerebellar ataxia, meaning that a single copy of the mutated gene is sufficient to cause the condition. The genetic basis of SCA37 has been linked to mutations in the DAB1 gene.

It's worth noting that SCA37 is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), and its symptoms can be similar to those of other spinocerebellar ataxias. However, the presence of altered vertical eye movements is a distinctive feature of SCA37.

References:

• [1] Spinocerebellar ataxia type 37 (SCA37) is characterized by adult onset, dysarthria, slowly progressive gait and limb ataxia with severe dysmetria in the lower extremities, mild dysmetria in the upper extremities, dysphagia, and abnormal ocular movements (dysmetric vertical saccades, irregular ... [2]
• [3] Spinocerebellar Ataxia Type 37: Genes and Databases ... Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.
• [4] Sanchez, I., Volpini, V., Matilla-Duenas, A. New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32....

Spinocerebellar ataxia type 37 (SCA37) is a rare genetic disorder characterized by progressive problems with movement, particularly in the cerebellum. The symptoms of SCA37 can vary from person to person, but here are some common signs and symptoms associated with this condition:

• Initial dysarthria: Difficulty speaking or slurred speech is often one of the first noticeable symptoms of SCA37 [1].
• Altered vertical eye movements: A distinctive clinical feature of SCA37 is the presence of altered vertical eye movements in early stages of the disease [1, 3].
• Falls and clumsiness: As the disease progresses, individuals with SCA37 may experience falls, clumsiness, and difficulty with coordination and balance [2, 4].
• Cerebellar symptoms: In most individuals, cerebellar symptoms such as limb ataxia, dysarthria, dysphagia, and diplopia on the horizontal line may emerge as the disease progresses [3, 4].
• Sensory loss: Some individuals with SCA37 may experience sensory loss in later stages of the condition [4].
• Ophthalmoparesis and ophthalmoplegia: In advanced cases, affected individuals may develop ophthalmoparesis (weakness of eye muscles) followed by ophthalmoplegia (paralysis of eye muscles) [4].

It's essential to note that these symptoms can vary in severity and progression from person to person. A diagnosis of SCA37 is typically made based on a combination of clinical evaluation, family history, and genetic testing.

References: [1] Serrano-Munuera et al (2013) [2] Corral-Juan et al (2018) [3] M Corral-Juan · 2018 · Cited by 62 [4] Spinocerebellar ataxia type 37 is an adult-onset dominant ataxia characterised by altered vertical eye movements.

Spinocerebellar ataxia type 37 (SCA37) is a rare genetic disorder that affects the cerebellum, leading to various neurological symptoms. Diagnostic tests for SCA37 are crucial for accurate diagnosis and management of the condition.

Current Diagnostic Tests

According to available information [1], there is no specific diagnostic test for spinocerebellar ataxia type 37 (SCA37). However, a clinical resource [3] provides information on the clinical features of SCA37, which can aid in diagnosis. The resource also mentions that genetic tests are available from US labs and other international laboratories.

Genetic Testing

Genetic testing is an essential tool for diagnosing spinocerebellar ataxias (SCAs), including SCA37 [5]. This test assesses for CAG repeat expansions within specific genes associated with SCAs, such as ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7. However, it is essential to note that the type of spinocerebellar ataxia (SCA) to be assessed must be specified for testing to be performed [6].

PCR and Second-Level Testing

Another diagnostic approach involves PCR (Polymerase Chain Reaction) followed by a second-level test whenever a false normal homozygous or a CAT allele is detected [7]. This method can help identify small expanded alleles associated with SCAs.

Clinical Overlap

Due to the broad clinical overlap of spinocerebellar ataxias, most laboratories have a battery of tests that include testing for SCA1, SCA2, SCA3, SCA6, and other types [9]. This comprehensive approach can aid in diagnosing specific SCAs, including SCA37.

ICD-9 Codes

The ICD-9 code system provides additional information on diagnostic procedures related to the heart and pericardium (codes 37.0-37.9) [10].

In summary, while there is no specific diagnostic test for spinocerebellar ataxia type 37 (SCA37), genetic testing, PCR, and second-level testing can aid in diagnosis. A comprehensive approach that includes testing for various SCAs and consideration of clinical features may be necessary to accurately diagnose SCA37.

References:

[1] Matilla-Dueñas et al. (2019) - The phenotypic manifestations of spinocerebellar ataxia type 37 (SCA37) are not specific...

[3] Clinical resource with information about Spinocerebellar ataxia type 37 and its clinical features, DAB1...

[5] This test assesses for CAG repeat expansions within the ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7 genes, associated with spinocerebellar ataxia (SCA) type 1.

[6] The type of spinocerebellar ataxia (SCA) to be assessed (SCA1, 2, 3, 6, or 7) is required. This information must be provided for testing to be performed.

[7] PCR and second-level testing whenever a false normal homozygous or a CAT allele is detected.

[9] Most laboratories have a battery of tests that include testing for SCA1, SCA2, SCA3, SCA6, and other types due to the broad clinical overlap of spinocerebellar ataxias.

[10] ICD-9 codes 37.0-37.9 provide information on diagnostic procedures related to the heart and pericardium.

Current Treatment Options for Spinocerebellar Ataxia Type 37 (SCA37)

Spinocerebellar ataxia type 37 (SCA37) is a rare genetic disorder that affects the cerebellum, leading to progressive loss of coordination and balance. While there is no cure for SCA37, various treatment options are available to manage its symptoms.

Palliative Care

The primary goal of palliative care in SCA37 is to alleviate symptoms and improve quality of life. This includes:

• Speech therapy to maintain communication skills
• Physical therapy to preserve mobility and balance
• Use of canes or walkers for support

These measures can help individuals with SCA37 maintain their independence and participate in daily activities.

Riluzole

Research has shown that riluzole, a medication used to treat amyotrophic lateral sclerosis (ALS), may also be effective in improving cerebellar symptoms in patients with various types of degenerative ataxia, including SCA37 [3]. However, more studies are needed to confirm its efficacy and safety in this specific condition.

Other Potential Treatments

Several other medications have been suggested as potential treatments for SCA37, including:

• Rovatirelin
• Amantadine
• Buspirone
• Varenicline

These agents may help alleviate symptoms such as muscle stiffness, tremors, and balance problems. However, more research is needed to determine their effectiveness and safety in treating SCA37.

Importance of Consultation

It is essential for individuals with SCA37 to consult with a healthcare professional for personalized medical advice and treatment. A multidisciplinary team approach can help manage symptoms and improve quality of life.

References:

[1] Matilla-Dueñas, A. (2019). Treatment of Manifestations. No curative treatment is available for individuals with SCA37. Palliative care includes the following: Speech ... [Search Result 1]

[3] Ghanekar,

Spinocerebellar ataxia type 37 (SCA37) is a rare genetic disorder characterized by adult-onset, slowly progressive gait and limb ataxia with severe dysmetria in the lower limbs. When diagnosing SCA37, it's essential to consider differential diagnoses that can mimic or co-occur with this condition.

Differential Diagnoses:

• Lipid storage diseases (such as neuronal ceroid lipofuscinosis)
• Leber hereditary optic neuropathy
• Other forms of Autosomal Dominant Cerebellar Ataxias (ADCA)

These conditions can present with similar symptoms, including ataxia, dysarthria, and visual disturbances. A thorough medical evaluation, including molecular genetic testing, is necessary to establish a definitive diagnosis of SCA37.

Diagnostic Criteria:

The diagnosis of SCA37 is established in a proband by identification of a heterozygous ATTTC repeat insertion within DAB1 by molecular genetic testing [8]. This genetic test can help differentiate SCA37 from other forms of ADCA and lipid storage diseases.

Clinical Heterogeneity:

It's worth noting that over 41 different SCA subtypes have been described, highlighting the high clinical and genetic heterogeneity of these disorders [9]. Therefore, a comprehensive diagnostic approach is crucial to accurately diagnose and manage patients with SCA37.

References:

[8] - The diagnosis of SCA37 is established in a proband by identification of a heterozygous ATTTC repeat insertion within DAB1 by molecular genetic testing. All other forms of ADCA should be ruled out before making a definitive diagnosis of SCA37. [9] - Over 41 different SCA subtypes have been described evidencing the high clinical and genetic heterogeneity. We previously reported a novel spinocerebellar ataxia, which is now recognized as SCA37.