spinocerebellar ataxia type 38

Spinocerebellar ataxia type 38 (SCA38) is a rare genetic disorder that affects the cerebellum, leading to progressive damage and symptoms. The most common presenting features of SCA38 are nystagmus (abnormal eye movements) and slowly progressive gait ataxia (difficulty walking).

As the disease progresses, individuals with SCA38 may experience additional symptoms, including:

• Limb

Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3, characterized by the adult-onset of truncal ataxia, gait disturbance, and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following.

Common presenting features:

• Nystagmus (slowly progressive)
• Gait ataxia (truncal ataxia)
• Dysarthria (speech difficulties)
• Limb ataxia (co-ordination problems in arms and legs)

As the disease progresses, other cerebellar symptoms may emerge, including:

• Sensory loss
• Ophthalmoparesis (weakness of eye muscles)
• Ophthalmoplegia (paralysis of eye muscles)
• Diplopia (double vision) on the horizontal line

Additionally, some individuals with SCA38 may experience:

• Pes cavus (high arches in feet)
• Hyposmia (reduced sense of smell)

These symptoms can vary in severity and progression, but they are generally slow to develop over time. It's essential for individuals with SCA38 to receive proper medical attention and care to manage their condition.

References: [1] Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. [2] As the disease progresses, cerebellar symptoms (limb ataxia, dysarthria, dysphagia, diplopia on the horizontal line) may emerge, and affected individuals may experience sensory loss. [3] The most common presenting features are nystagmus and slowly progressive gait ataxia. As the disease progresses, cerebell

Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia, and its diagnosis can be established through various diagnostic tests.

Molecular Genetics Tests

Several molecular genetics tests are available for the diagnosis of SCA38. These include:

• Deletion/duplication analysis [2]
• Microsatellite instability testing (MSI) [1]
• Targeted variant analysis [2]
• Mutation scanning of specific genes associated with SCA38, such as AT

Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3, characterized by adult-onset symptoms typically appearing around the age of 40 years [3]. While there is no cure for SCA38, research has explored various treatment options to manage its symptoms.

One area of interest is the use of docosahexaenoic acid (DHA), an omega-3 fatty acid. Studies have shown that DHA supplementation can improve cerebellar hypometabolism in patients with SCA38 [4], [5]. A small trial demonstrated promise in reducing clinical symptoms over a two-year period [5].

Additionally, research into other potential treatments is ongoing. For instance, a study on the administration of PUFAs downstream Elovl5 from birth showed significant improvement in motor performance in the beam test [8]. This suggests that early intervention with certain nutrients may be beneficial.

It's essential to note that while these findings are promising, more research is needed to fully understand their implications and potential benefits for SCA38 patients. Consultation with a healthcare professional is recommended for personalized advice and treatment planning [7].

References: [3] Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of ... [4] Improvement of cerebellar hypometabolism after 40-week docosahexaenoic acid (DHA) treatment in spinocerebellar ataxia 38 (SCA38) patients. [5] Small trial of docosahexaenoic acid for treating SCA38 symptoms over two year period shows promise and reduces clinical symptoms. [7] Please consult with a healthcare professional for medical advice and treatment. Print. Disease Overview. Spinocerebellar ataxia type 38 (SCA38) is a subtype ... [8] The administration from birth of the diet containing PUFAs downstream Elovl5 led to a significant amelioration of the motor performance in the beam test.

Spinocerebellar ataxia type 38 (SCA38) is a rare form of inherited ataxia that can be challenging to diagnose due to its similarity with other types of autosomal dominant cerebellar ataxias. The differential diagnosis for SCA38 includes:

• Other types of autosomal dominant cerebellar ataxias, such as spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2), and spinocerebellar ataxia type 3 (SCA3) [8].
• Prenatal diagnosis is possible when the ATTTC insertion within the DAB1 gene is identified, which can guide genetic screening and prompt further investigation for SCA38 [8].

It's essential to consider these differential diagnoses when evaluating patients with symptoms of ataxia, as accurate diagnosis can significantly impact treatment and management plans.

In addition to these specific types of autosomal dominant cerebellar ataxias, the differential diagnosis for SCA38 also includes other neurodegenerative disorders that may present with similar clinical features. A comprehensive diagnostic workup, including genetic testing and neurological evaluation, is crucial for accurate diagnosis and differentiation from other conditions.

References: [8] - [9]

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