autosomal recessive spinocerebellar ataxia 20

Autosomal Recessive Spinocerebellar Ataxia 20 (SCA20) is a rare neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech and language skills [1]. Individuals with SCA20 often exhibit intellectual disability, ataxia, and coarse facial features [2][3].

The disorder is caused by mutations in the SNX14 gene, which plays a crucial role in the development of the cerebellum and other parts of the brain [4]. The symptoms of SCA20 can vary in severity and may include:

• Severe delays in psychomotor development
• Poor or absent speech and language skills
• Intellectual disability
• Ataxia (difficulty with coordination and balance)
• Coarse facial features

SCA20 is a rare disorder, and its exact prevalence is unknown. However, it is considered to be one of the many types of autosomal recessive cerebellar ataxias, which are characterized by mutations in different genes that affect the development and function of the cerebellum [5].

References: [1] Context 2 [2] Context 6 [3] Context 7 [4] Context 8 [5] Context 9

Autosomal recessive spinocerebellar ataxia-20 (SCAR20) is a neurodevelopmental disorder characterized by severely delayed psychomotor development, poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy [1]. The age of symptomatic disease onset ranges from 19 to 64 years, with most affected patients exhibiting palatal tremor and spasmodic dysphonia [4].

Some common signs and symptoms of SCAR20 include:

• Intellectual disability: Many individuals with SCAR20 experience intellectual disability, which can range from mild to severe [5].
• Ataxia: SCAR20 is characterized by ataxia, a lack of coordination and balance that affects gait stability, eye movement, and speech [12].
• Coarse facial features: Individuals with SCAR20 often have coarse facial features, such as a prominent forehead, large nose, and thick lips [1].
• Cerebellar atrophy: The cerebellum, which is responsible for coordination and balance, undergoes significant atrophy in individuals with SCAR20 [3].
• Palatal tremor: Many patients with SCAR20 experience palatal tremor, a type of myoclonus that affects the palate [10].
• Spasmodic dysphonia: Some individuals with SCAR20 may also exhibit spasmodic dysphonia, a voice disorder characterized by strained or strangled speech [4].

It's essential to note that these symptoms can vary in severity and presentation among individuals with SCAR20. A comprehensive medical evaluation is necessary for an accurate diagnosis and to rule out other potential causes of these symptoms.

References:

[1] OMIM - Autosomal recessive spinocerebellar ataxia-20 [3] Context result 3 [4] Context result 4 [5] Context result 5 [10] Context result 10 [12] Context result 12

Autosomal recessive spinocerebellar ataxia 20 (SCA20) is a rare subtype of type I autosomal dominant cerebellar ataxia. Diagnostic tests for SCA20 can be challenging due to its rarity, but several approaches can help distinguish it from other forms of ataxia.

• Genetic testing: Genetic testing can identify the specific genetic mutation responsible for SCA20. However, this may not always be possible, especially in cases where the family history is unclear or uncertain [7].
• MRI and imaging studies: Magnetic Resonance Imaging (MRI) and other imaging studies can help rule out acquired causes of ataxia, such as stroke or tumor, and provide clues about the underlying genetic cause [6].
• Clinical algorithm: A clinical algorithm for genetic testing for spinocerebellar ataxia (SCA) has been proposed, which takes into account the family history, age of onset, and other clinical features to guide the decision-making process [7].

It's worth noting that SCA20 is a very rare subtype of type I autosomal dominant cerebellar ataxia, and diagnostic tests may not always be available or reliable. In such cases, a diagnosis can be challenging, and further research and investigation may be necessary.

References: [6] Sep 9, 2020 — Diagnostic testing: Genetic testing and MRI can distinguish genetic from acquired (non-genetic) causes of ataxia. [7] by EK Tan · 2001 · Cited by 75 — Clinical algorithm for genetic testing for spinocerebellar ataxia (SCA). If the family history suggests an autosomal recessive or uncertain inheritance pattern, ... [4] Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). ... Diagnostic tests ( ...

Based on the available information, it appears that there are some potential treatment options for autosomal recessive spinocerebellar ataxia 20 (SCA20).

• Riluzole: A study published in [1] suggests that riluzole, a drug used to treat amyotrophic lateral sclerosis (ALS), may also be beneficial in improving cerebellar symptoms in patients with various types of degenerative cerebellar ataxias, including SCA20.
• Troriluzole: Another study published in [7] mentions that troriluzole, a pro-drug of riluzole, is being developed as a potential treatment for cerebellar ataxia. However, it's essential to note that this information is from 2020 and may not reflect the current status of this drug.
• Chenodeoxycholic acid: A study published in [10] suggests that chenodeoxycholic acid supplementation may be beneficial in treating SCA20. The recommended dose is 250 mg three times per day.

It's essential to note that these potential treatment options are based on limited information and may not be universally applicable or effective for all individuals with SCA20. Additionally, there is no known cure or standard treatment for this condition.

References:

[1] SD Ghanekar (2022) - Cited by 28 [7] SL Perlman (2020) - Cited by 20 [10] KP Divya (2020) - Cited by 12

Autosomal Recessive Spinocerebellar Ataxia 20 (SCAR20) is a rare disorder characterized by intellectual disability, ataxia, and coarse facial features. When considering the differential diagnosis for SCAR20, several other conditions should be taken into account.

• Friedreich's Ataxia: This is the most common form of recessive ataxia, which can present with similar symptoms to SCAR20, including gait and limb ataxia, dysarthria, and lower limb areflexia [3].
• Ataxia-Telangiectasia (AT): Another autosomal recessive disorder that can cause ataxia, telangiectasias, and immunodeficiency. The symptoms of AT can overlap with those of SCAR20, making differential diagnosis challenging [6].
• Ataxia with Oculomotor Apraxia Type 1 (AOA1): This is a rare autosomal recessive disorder that presents with ataxia, oculomotor apraxia, and other neurological symptoms. The clinical presentation of AOA1 can be similar to SCAR20 [6].
• Autosomal Recessive Cerebellar Ataxias (ARCAs): This is a heterogeneous group of neurodegenerative disorders affecting primarily the cerebellum and/or its afferent pathways. ARCAs can present with ataxia, dysarthria, and other cerebellar symptoms, similar to SCAR20 [5].
• Ataxic Cerebral Palsy: A non-progressive disorder that presents with cerebellar symptoms, including ataxia, dysarthria, and other motor impairments. Ataxic cerebral palsy can be a differential diagnosis for early-onset autosomal recessive spinocerebellar ataxias [7].

It is essential to consider these conditions when diagnosing SCAR20, as the clinical presentation can overlap with other autosomal recessive disorders. A comprehensive diagnostic evaluation, including genetic testing and neurological examination, is necessary to accurately diagnose SCAR20.

References: [1] - Not available in context [2] - Not available in context [3] by F Palau · 2006 · Cited by 253 — [5] by D Lopergolo · 2024 · Cited by 1 — [6] by A Shukla · 2017 · Cited by 32 — [7] by EK Embiruçu · 2009 · Cited by 57 —