obsolete infantile onset spinocerebellar ataxia

Infantile Onset Spinocerebellar Ataxia (IOSCA) Description

Infantile-onset spinocerebellar ataxia (IOSCA) is a rare and severe neurodegenerative disorder that affects the nervous system. It is characterized by early and severe involvement of both the peripheral and central nervous systems.

Key Features:

• Early Onset: Symptoms typically appear in infancy, with normal development during the first year of life.
• Progressive Disorder: The condition gradually worsens over time, affecting coordination, muscle tone, and other motor functions.
• Hereditary: IOSCA is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Symptoms:

• Difficulty coordinating movements (ataxia)
• Weak muscle tone (hypotonia)
• Involuntary writhing movements
• Progressive loss of motor skills and coordination

Citations: [1] - [3]

Note: The description provided is based on the information available in the search results, specifically from sources 1, 2, and 13.

Infantile Onset Spinocerebellar Ataxia (IOSCA) Signs and Symptoms

Spinocerebellar ataxias are a group of rare genetic disorders that affect the cerebellum, leading to various motor symptoms. Infantile onset spinocerebellar ataxia (IOSCA) is one such condition characterized by early-onset ataxia.

Key Features:

• Ataxia: The primary symptom of IOSCA is ataxia, which manifests as a lack of coordination and balance problems [1].
• Dystonia: Patients with IOSCA often experience dystonic symptoms, including involuntary muscle contractions and spasms [3].
• Cognitive Impairment: Some individuals with IOSCA may exhibit cognitive impairment, affecting their learning and memory abilities [5].

Other Symptoms:

• Slow Saccades: Patients with IOSCA may have difficulty moving their eyes quickly from one point to another (slow saccades) [5].
• Lid Retraction: Some individuals with IOSCA experience lid retraction, which is a condition where the eyelids are raised involuntarily [5].

Age of Onset:

IOSCA typically presents in infancy or early childhood. The exact age of onset can vary depending on individual cases.

References:

[1] CYR Lin (2023) - Ataxia refers to a specific constellation of symptoms and signs, characterized by a combination of the following features: lack of coordination in eye movements... [1]

[3] N Mitchell (2019) - In the initial segment, the patient has some dystonia of the fingers which increases with repetitive movements. There is slight clumsiness with pronation/... [3]

[5] SM Elsayed (2014) - Superficial reflexes (ipsilateral contraction of upper and lower abdominal muscles upon stroke) were lost, whereas sensation was normal. Signs... [10]

Note: The references provided are based on the search results within the context block.

Based on the provided context, it appears that there are several diagnostic tests and approaches mentioned in relation to infantile onset spinocerebellar ataxia (IOSCA). Here's a summary of the relevant information:

• The diagnosis of IOSCA is established in a proband with typical clinical findings and identification of biallelic pathogenic variants in TWNK by molecular analysis [5].
• A custom targeted resequencing panel encompassing 285 genes known to cause HA or more complex syndromes in which ataxia is a symptom was designed using next-generation sequencing (NGS) technology [7].

It's worth noting that the context mentions several other conditions and diagnostic approaches, but they seem to be unrelated to IOSCA. Therefore, I will focus on providing information specific to IOSCA.

The diagnosis of IOSCA appears to involve a combination of clinical findings and molecular analysis. The identification of biallelic pathogenic variants in TWNK is a key factor in establishing the diagnosis [5]. Additionally, there may be other genetic or molecular tests that can help confirm the diagnosis, such as next-generation sequencing (NGS) technology.

It's also worth noting that the context mentions several other conditions and diagnostic approaches, but they seem to be unrelated to IOSCA. Therefore, I will not provide information on those topics.

If you have any further questions or would like more specific information on IOSCA diagnosis, please let me know!

References: [5] - The diagnosis of IOSCA is established in a proband with typical clinical findings and identification of biallelic pathogenic variants in TWNK by molecular analysis. [7] - A custom targeted resequencing panel encompassing 285 genes known to cause HA or more complex syndromes in which ataxia is a symptom was designed using next-generation sequencing (NGS) technology.

Based on the available information, it appears that there are limited treatment options for infantile-onset spinocerebellar ataxia (IOSCA). However, some potential therapies may be considered to manage symptoms and improve quality of life.

• Physical and occupational therapy: These forms of therapy can help individuals with IOSCA maintain muscle strength, coordination, and balance. They can also assist with daily living activities and provide support for the affected individual and their family (1).
• Medications: While there is no cure for IOSCA, medications may be prescribed to manage specific symptoms such as seizures, psychiatric symptoms, and stiffness. However, it's essential to note that these treatments are not curative and primarily focus on symptom management (2-4).

It's also worth noting that some studies suggest that high-dose thiamine therapy may be beneficial in cases of acute ataxia, which can sometimes coexist with IOSCA (9). However, more research is needed to confirm the effectiveness of this treatment approach.

Unfortunately, there is currently no known effective treatment or cure for spinocerebellar ataxia (SCA), including infantile-onset SCA. The prognosis for individuals affected by SCA is often poor, and the disorder can be fatal (4-7).

References:

(1) SD Ghanekar · 2022 · Cited by 28 (2) SD Ghanekar · 2022 · Cited by 28 (3) Mar 1, 2010 (4) Spinocerebellar ataxia (SCA) is hereditary, progressive, and often fatal. There is no known effective treatment or cure. SCA can affect anyone of any age. (5) Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central ... (6) Sep 9, 2020 (7) Spinocerebellar ataxia (SCA) is hereditary, progressive, and often fatal. There is no known effective treatment or cure. SCA can affect anyone of any age. (8) Riluzole, often sold under the trade name Rilutek, is a medication used for the treatment of amyotrophic lateral sclerosis (ALS). ALS is a fatal ... (9) by KP Divya · 2020 · Cited by 12

Based on the provided context, it appears that you are looking for information on the differential diagnosis of a specific type of spinocerebellar ataxia.

Possible Causes and Conditions

The differential diagnosis of spinocerebellar ataxias is extensive. Typically, when considering a differential diagnosis, ataxia is classified based on whether it is acute, episodic, or progressive [4]. In the case of obsolete infantile onset spinocerebellar ataxia, several conditions may be considered:

• Spinocerebellar Ataxia Type 31 (SCA31): This is an autosomal dominant disease characterized by a late-onset, progressive, relatively pure cerebellar form of ataxia [2]. SCA31 is described as a slowly progressive pure cerebellar syndrome with symptoms including ataxia, dysarthria, and oculomotor dysfunction [7].
• SYNE1 deficiency: This condition comprises a phenotypic spectrum that ranges from autosomal recessive cerebellar ataxia to arthrogryposis multiplex congenita (AMC) [3]. SYNE1 deficiency may be considered in cases of infantile onset spinocerebellar ataxia.
• Other Spinocerebellar Ataxias: Over 40 different forms of spinocerebellar ataxia have been identified, each caused by mutation at a different genetic locus [9]. Other types of spinocerebellar ataxia may also be considered in the differential diagnosis.

Genetic Considerations

The list of causes of ataxia is extensive, and genetic changes play a significant role in many cases. Autosomal dominant and recessive SCA may be allelic disorders, meaning that they share similar genetic mechanisms [6]. The complete coding sequences of genes involved in spinocerebellar ataxias should be considered when evaluating the differential diagnosis.

Clinical Features

The clinical features of obsolete infantile onset spinocerebellar ataxia are not explicitly stated in the provided context. However, based on the information available, symptoms such as impaired vision, ataxia, slow eye movements, dysarthria, and dysphagia may be considered [8].

References

[2] by J Saucier · 2023 · Cited by 10 — SCA31 is an autosomal dominant neurodegenerative disorder characterized by a late-onset, progressive, relatively pure cerebellar form of ataxia. [3] by M Beaudin · 2018 · Cited by 12 — SYNE1 deficiency comprises a phenotypic spectrum that ranges from autosomal recessive cerebellar ataxia to arthrogryposis multiplex congenita (AMC). [4] The list of causes of ataxia is extensive. Typically, when considering a differential diagnosis, ataxia is classified on the basis of whether it is acute, ... [6] by SM Elsayed · 2014 · Cited by 51 — Our study confirms that autosomal dominant and recessive SCA may be allelic disorders. As a consequence, the complete coding sequences of genes ... [7] by J Saucier · 2023 · Cited by 10 — SCA31 is described as a slowly progressive pure cerebellar syndrome characterized by cerebellar signs such as ataxia, dysarthria and oculomotor dysfunction. [8] Symptoms include impaired vision, ataxia, slow eye movements, dysarthria, and dysphagia. The disease is caused by genetic changes in the ATXN7 gene and is ... [9] Jun 21, 2018 — Objective: Over 40 different forms of spinocerebellar ataxia (SCA) have been identified, each caused by mutation at a different genetic locus. [10] by D Galatolo · 2021 · Cited by 21 — Gait abnormalities, lack of coordination, dysarthria, and dysmetria are the most common clinical traits, associated with degeneration of Purkinje cells and/or ...