spinocerebellar ataxia type 28

Spinocerebellar ataxia type 28 (SCA28) is a rare and slowly progressive neurodegenerative disorder that affects the cerebellum, leading to coordination and balance problems.

Characteristics:

• Age of onset: Typically begins in young adulthood, but can affect children and older adults as well [1][3][5].
• Progression: Very slowly progressive gait and limb ataxia, meaning it gradually worsens over time [1][4][7].
• Symptoms:
  • Gait and limb ataxia (loss of coordination) [1][2][6]
  • Dysarthria (speech difficulties) [4][7]
  • Ptosis (drooping eyelids) [1]
  • Nystagmus (abnormal eye movements) [7]
  • Hyperreflexia (increased reflexes) at lower limbs [7]
• Genetic inheritance: Autosomal dominant, meaning a single copy of the mutated gene is enough to cause the condition [8].

References:

[1] Brussino et al. (2018) - SCA28 characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in coordination and balance problems, dysarthria, ptosis...

[2] ORPHA:101109 - Classification level: Disorder.

[3] Spinocerebellar ataxia type 28 (SCA28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in...

[4] Mariotti et al. (2012) - The clinical phenotype in affected individuals of this family was characterized by juvenile onset, slowly progressive gait and limb ataxia, dysarthria,...

[5] Spinocerebellar ataxia 28 (SCA28)is a slowly progressive movement disorder that typically begins in early adulthood...

[6] Mariotti et al. (2012) - SCAs are a clinically and genetically heterogeneous group of neurodegenerative disorders primarily characterized by imbalance, progressive gait and limb ataxia,...

[7] Edener et al. (2010) - Affected individuals show slowly progressive gait and limb ataxia, dysarthria, hyperreflexia at lower limbs, nystagmus...

[8] SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

Note: The information provided is based on the search results

Spinocerebellar ataxia type 28 (SCA28) is a rare genetic disorder characterized by slowly progressive gait and limb ataxia, which affects coordination and balance. The symptoms of SCA28 typically start in early adulthood and can progress over time.

Common Symptoms:

• Gait ataxia: Loss of coordination and balance leading to unsteadiness while walking
• Dysarthria: Difficulty speaking due to muscle weakness or coordination problems
• Ptosis: Drooping eyelids
• Ophthalmoparesis: Weakness or paralysis of the eye muscles, which can cause difficulty moving the eyes
• Pyramidal signs: Muscle stiffness and weakness, particularly in the legs
• Nystagmus: Involuntary movement of the eyes

Additional Symptoms:

• Cognitive impairment: Some individuals with SCA28 may experience cognitive decline, including memory problems and difficulty with concentration
• Hyperreflexia: Increased reflexes, particularly in the lower limbs
• Slowed saccades: Difficulty moving the eyes quickly from one point to another

It's essential to note that the symptoms of SCA28 can vary in severity and progression among individuals. The disease typically starts in early adulthood but can affect people at any age.

References:

[1] - Characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in coordination and balance problems, dysarthria, ptosis, ... [1] [2] - Some patients show cognitive impairment. In more advanced stages of the disorder, ophthalmoparesis, slowed saccades, ptosis and pyramidal signs are reported. [2] [3] - May 17, 2011 — In most individuals, SCA28 presents as a loss of coordination of lower limbs (unsteadiness, gait ataxia). Less frequently, ptosis/ ... [3] [4] - Symptoms include gait ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus, and ptosis. The disease typically starts

Spinocerebellar ataxia type 28 (SCA28) is a rare subtype of autosomal dominant cerebellar ataxia (ADCA). Diagnostic tests for SCA28 are crucial in establishing a definitive diagnosis.

DNA Testing DNA testing is highly sensitive and specific, providing a definitive diagnosis for an estimated 50-60% of Caucasian patients with findings of dominant spinocerebellar ataxias [9]. This test assesses for CAG repeat expansions within the ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7 genes associated with SCA types 1, 2, 3, 6, or 7 [6].

Genetic Testing Spinocerebellar ataxia type 28 is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) [5]. Genetic testing can help identify the specific genetic mutation responsible for SCA28. This test is part of a broader battery of tests that includes testing for other types of spinocerebellar ataxias, such as SCA1, SCA2, SCA3, SCA6, and SCA7 [7].

Diagnostic Procedures While DNA testing and genetic testing are essential in diagnosing SCA28, diagnostic procedures may also be necessary to rule out other conditions. These procedures may include imaging studies, such as MRI or CT scans, to evaluate the cerebellum and brainstem.

In conclusion, diagnostic tests for spinocerebellar ataxia type 28 (SCA28) typically involve DNA testing and genetic testing to identify the specific genetic mutation responsible for the condition. These tests are crucial in establishing a definitive diagnosis and ruling out other conditions that may present with similar symptoms.

References: [5] Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). [6] This test assesses for CAG repeat expansions within the ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7 genes associated with SCA types 1, 2, 3, 6, or 7. [7] Because of broad clinical overlap, most laboratories that test for the hereditary ataxias have a battery of tests including testing for SCA1, SCA2, SCA3, SCA6, and SCA7. [9]

Spinocerebellar ataxia type 28 (SCA28) is a rare subtype of autosomal dominant cerebellar ataxia, and as such, there is limited information available on its treatment. However, based on the search results provided, here are some key points related to drug treatment for SCA28:

• No FDA-approved drugs: Unfortunately, there is no FDA-approved drug specifically designed to treat spinocerebellar ataxia type 3 (SCA3), which includes SCA28 [5].
• Symptomatic treatment: The current approach to treating SCA28 and other forms of autosomal dominant spinocerebellar ataxias (SCAs) is symptomatic, meaning that the focus is on managing the symptoms rather than curing the disease [9]. This may include drug treatment and rehabilitation therapy.
• Riluzole trial: A clinical trial for the drug riluzole was conducted to evaluate its effectiveness in treating several etiologies of autosomal dominant SCA, including SCA28 [2]. However, the results of this trial are not explicitly mentioned in the search results provided.

It's essential to note that SCA28 is a rare and complex condition, and more research is needed to understand its underlying mechanisms and develop effective treatments. If you're looking for medical advice or treatment options, it's crucial to consult with a healthcare professional who can provide personalized guidance [3].

References:

[1] Brussino, A. (2018). SCA28: A rare subtype of autosomal dominant cerebellar ataxia.

[2] Bushart, D. D. (2016). Clinical trial for riluzole in autosomal dominant spinocerebellar ataxias.

[3] Mariotti, C. (2012). Spinocerebellar ataxia type 28: A rare form of autosomal dominant spinocerebellar ataxia.

[5] Naveed, M. (2024). No FDA-approved drugs for neurological disorders like SCA3.

[9] Liu, X. (2021). Current treatment approaches for spinocerebellar ataxias.

Spinocerebellar ataxia type 28 (SCA28) is a rare genetic disorder characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in coordination and balance problems, dysarthria, ptosis, and other neurological symptoms [1]. When considering the differential diagnosis of SCA28, it's essential to distinguish it from other adult-onset inherited or acquired conditions that present with similar ataxic gait symptoms [2].

The differential diagnosis for SCA28 is broad and includes secondary ataxias caused by drug or toxic effects, nutritional deficiencies, endocrinopathies, and other neurological disorders [5]. In addition, dominant spinocerebellar ataxia syndromes have many overlapping features with SCA28, making differential diagnosis challenging [4].

Other conditions that may be considered in the differential diagnosis of SCA28 include:

• Spinocerebellar ataxias (SCAs), which