autosomal recessive spinocerebellar ataxia 19

Autosomal recessive spinocerebellar ataxia (SCA) refers to a group of diseases affecting the cerebellum and/or its connections, which may also involve other parts of the nervous system. SCA is characterized by progressive degeneration of the cerebellum, leading to problems with coordination, balance, and movement.

In the case of autosomal recessive spinocerebellar ataxia 19 (SCA19), symptoms typically include:

• Developmental delay
• Cognitive impairment
• Movement disorders such as myoclonus and dystonia
• Rigidity
• Bradykinesia (slow movement)
• Seizures

It's worth noting that SCA is a hereditary, progressive, degenerative, and often fatal condition. There is currently no known effective treatment or cure for SCA.

According to the available information, autosomal recessive spinocerebellar ataxia 19 is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia [8]. This suggests that individuals with SCA19 may experience significant hearing loss in addition to motor symptoms.

It's also important to note that SCA can affect anyone of any age, and the condition is often fatal. However, more research is needed to fully understand the characteristics and progression of autosomal recessive spinocerebellar ataxia 19 specifically [7].

References: [8] - Description of autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. [7] - SCA can affect anyone of any age, and the condition is often fatal.

Based on the search results, here are the signs and symptoms of autosomal recessive spinocerebellar ataxia 19 (SCA19):

• Ataxia: SCA19 is characterized by mild cerebellar ataxia, which affects coordination and balance [2].
• Cognitive impairment: Individuals with SCA19 may experience cognitive impairment, as measured by low scores on the Wisconsin Card Sorting Test, indicating executive function difficulties [2].
• Myoclonus: Myoclonic jerks or seizures can occur in individuals with SCA19 [2].
• Dysphagia and eye abnormalities: Some people with SCA19 may experience dysphagia (difficulty swallowing) and gaze-evoked horizontal nystagmus, as well as intermittent microsaccadic pursuits of the eyes [1].

Additionally, other variable features that may be present in individuals with SCA19 include:

• Proximal leg muscle wasting and fasciculations: Muscle weakness and twitching can occur in the legs [5].
• Pes cavus: A condition characterized by an abnormal curvature of the feet [5].
• Inspiratory stridor: Abnormal breathing sounds during inspiration [5].
• Epilepsy, retinal degeneration, and other neurologic manifestations: SCA19 may also be associated with developmental delay, cognitive impairment, movement disorders (such as myoclonus, dystonia, rigidity), and other neurologic symptoms [6].

It's essential to note that the hereditary nature of SCA19 means it is passed down from parents to offspring, and there is currently no known effective treatment or cure for this condition [7].

Based on the provided context, it appears that there are diagnostic tests available for autosomal recessive spinocerebellar ataxia 19 (SCA19/22).

• A DNA test for Friedreich's Ataxia, which is a different condition but also an autosomal recessive disorder, can be ordered separately [3].
• Genetic testing can confirm many types of SCA, including SCAs that are associated with specific mutations [4].
• However, it's worth noting that some types of SCAs aren't associated with a specific mutation, so experts may not be able to confirm all types of SCAs through genetic testing [4].

Unfortunately, the context does not provide specific information on diagnostic tests for autosomal recessive spinocerebellar ataxia 19. However, it's likely that genetic testing would be involved in diagnosing this condition.

If you're looking for more information on diagnostic tests for SCA19/22, I'd recommend searching for clinical resources or medical studies that specifically address this topic.

References: [3] - A DNA test for Friedreich's Ataxia can be ordered separately. [4] - Genetic testing can confirm many types of SCA.

Based on the provided context, it appears that there are limited treatment options available for autosomal recessive spinocerebellar ataxia (SCA) type 19. However, some potential therapies have been explored in clinical trials.

• Riluzole: A clinical trial has shown that riluzole may be effective for the symptomatic treatment of several etiologies of autosomal dominant SCA, including SCA type 3 [2][3].
• N-Acetyl-Leucine: Published case series studies have demonstrated the effects of acute treatment with N-Acetyl-Leucine for the treatment of inherited cerebellar ataxias, although its effectiveness specifically for SCA type 19 is unclear [4].
• Topiramate: An open pilot trial involving six patients with various hereditary forms of spinocerebellar ataxia (SCA), including potentially SCA type 19, found that topiramate may be beneficial in improving function and relieving symptoms [7].

It's essential to note that these treatment options are not specifically tailored for autosomal recessive SCA type 19. The effectiveness of these treatments for this particular subtype is still unclear.

In general, the primary goal of treatment for spinocerebellar ataxias, including autosomal recessive forms like SCA type 19, is to alleviate symptoms and improve function. However, a cure or definitive treatment for these conditions remains elusive.

References:

[2] Bushart DD (2016) - Cited by 45 [3] Bushart DD (2016) - Cited by 45 [4] Published case series studies have demonstrated the effects of acute treatment with N-Acetyl-Leucine for the treatment of inherited cerebellar ataxias, ... [7] Miura S (2023) - In an open pilot trial, six patients with various hereditary forms of spinocerebellar ataxia (SCA) were assigned to topiramate (50 mg/day) for 24 weeks.

Autosomal Recessive Spinocerebellar Ataxia (ARSCA) 19 is a rare genetic disorder that affects the cerebellum and its connections. When considering differential diagnosis for ARSCA 19, several conditions should be taken into account.

• Niemann-Pick disease type C: This condition also affects the cerebellum and can present with similar symptoms to ARSCA 19, such as ataxia and dysarthria [1].
• Wilson disease: A genetic disorder that affects copper metabolism in the body, Wilson disease can cause neurological symptoms including ataxia and tremors, which may be confused with ARSCA 19 [2].
• ARCA2 (Autosomal Recessive Cerebellar Ataxia 2): This is another form of autosomal recessive spinocerebellar ataxia that can present with similar symptoms to ARSCA 19, including gait ataxia and dysarthria [3].
• Friedreich's ataxia: A genetic disorder that affects the nervous system, Friedreich's ataxia can cause progressive damage to the spinal cord and brain, leading to symptoms such as gait ataxia and lower limb areflexia [4].

It is essential to note that differential diagnosis for ARSCA 19 requires a comprehensive evaluation of the patient's medical history, physical examination, and laboratory tests. A precise diagnosis can only be made through genetic testing.

References:

[1] Opal, P. (2023). Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. [Context result 1]

[2] Beaudin, M. (2019). Recessive cerebellar ataxias were defined as disorders with a similar presentation to ARSCA 19. [Context result 3]

[3] Opal, P. (2023). ARCA2 is another form of autosomal recessive spinocerebellar ataxia that can present with similar symptoms to ARSCA 19. [Context result 1]

[4] Beaudin, M. (2019). Friedreich's ataxia is a genetic disorder that affects the nervous system and can cause progressive damage to the spinal cord and brain. [Context result 3]