autosomal recessive spinocerebellar ataxia 14

Autosomal Recessive Spinocerebellar Ataxia 14 (SCAR14) Overview

Autosomal recessive spinocerebellar ataxia-14 (SCAR14) is a rare neurologic disorder characterized by delayed psychomotor development, severe early-onset gait ataxia, and other symptoms. This condition is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene for their child to inherit the disease.

Key Features:

• Delayed psychomotor development
• Severe early-onset gait ataxia
• Other symptoms may include delayed speech and language development, muscle weakness, and coordination problems

Inheritance Pattern: SCAR14 is inherited in an autosomal recessive pattern, meaning that each child of two carriers has a 25% chance of inheriting the disease. Carriers are typically asymptomatic but can pass the mutated gene to their offspring.

References:

• [1] - Characterized by delayed psychomotor development and severe early-onset gait ataxia (2, 6, 8)
• [2] - Inherited in an autosomal recessive pattern (3, 5, 7)
• [3] - Each child of two carriers has a 25% chance of inheriting the disease (1, 5)

Autosomal recessive spinocerebellar ataxia 14 (SCAR14) is a rare neurologic disorder characterized by delayed psychomotor development, severe early-onset gait ataxia, and other symptoms. The signs and symptoms of SCAR14 may include:

• Delayed psychomotor development: Children with SCAR14 may experience delays in reaching developmental milestones, such as sitting, standing, or walking.
• Severe early-onset gait ataxia: This is one of the most common symptoms of SCAR14, characterized by an awkward and uncoordinated walk.
• Other motor symptoms: Individuals with SCAR14 may also experience other motor symptoms, including:
  • Incoordination (ataxia) or difficulty with balance and coordination
  • Weakness or paralysis in the arms or legs
  • Difficulty with speech or swallowing
• Sensory loss: Some individuals with SCAR14 may experience sensory loss, which can affect their ability to feel sensations such as touch, temperature, or vibration.

It's worth noting that the symptoms of SCAR14 can vary widely among affected individuals, and not everyone will experience all of these symptoms. However, early diagnosis and treatment are essential for managing the condition and improving quality of life.

References:

• [4] Autosomal recessive spinocerebellar ataxia-14 (SCAR14) is a neurologic disorder characterized by delayed psychomotor development, severe early-onset gait ataxia...
• [5] Signs and symptoms​​ Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and is often...

Based on the provided context, it appears that diagnostic tests for autosomal recessive spinocerebellar ataxia 14 (SCA14) are limited to genetic testing.

• A specific diagnosis of SCA14 can only be made by a genetic test done on a blood sample [3][8].
• This genetic test is sometimes clearly abnormal, but other times it may not show any abnormalities [5].

It's worth noting that the clinical features and inheritance pattern of SCA14 are described in resource 2, which provides information about Autosomal recessive spinocerebellar ataxia 14 and its clinical features.

Additionally, a DNA test for Friedreich ataxia, an autosomal recessive disorder, can be ordered separately [4]. However, this is not specific to SCA14.

It's also mentioned in resource 6 that if the family history suggests an autosomal recessive or uncertain inheritance pattern, then genetic testing may be considered.

Based on the available information, it appears that there are limited treatment options for autosomal recessive spinocerebellar ataxia 14 (SCA14). However, some potential therapies may be considered to manage symptoms.

• Physical therapy and occupational therapy may be beneficial in improving mobility and daily functioning [1].
• Botulinum toxin injections have been explored as a potential treatment option for SCA14, although its effectiveness is not well established [1].
• Medications such as clonazepam or valproic acid may help alleviate symptoms like axial myoclonus [7].

It's essential to note that these treatments are likely aimed at managing symptoms rather than curing the condition. Additionally, the effectiveness of these therapies may vary from person to person.

Unfortunately, there is no known effective treatment or cure for SCA14 [8]. Therefore, a comprehensive treatment plan should be developed in consultation with a healthcare professional to address the individual's specific needs and circumstances [5].

References: [1] - Potential therapies such as medications, botulinum toxin, physical and occupational therapy may be considered. [7] - Axial myoclonus may be improved by clonazepam or valproic acid (Yamashita et al., 2000). [8] - SCA is hereditary, progressive, degenerative, and often fatal. There is no known effective treatment or cure. [5] - Please consult with a healthcare professional for medical advice and treatment.

The differential diagnosis for autosomal recessive spinocerebellar ataxia 14 (SCAR14) includes several conditions that present with similar symptoms. Some of these conditions are:

• Friedreich ataxia: This is a genetic disorder that affects the nervous system and causes progressive damage to the spinal cord, peripheral nerves, and cerebellum [9].
• Ataxia with vitamin E deficiency: This condition is caused by a deficiency in vitamin E, which can lead to problems with coordination and balance [4].

It's worth noting that SCAR14 is characterized by delayed psychomotor development, severe early-onset gait ataxia, and other symptoms [3]. A specific diagnosis of SCAR14 can only be made by a genetic test done on a blood sample or other tissue [5].

In order to rule out these conditions and confirm the diagnosis of SCAR14, a thorough medical evaluation is necessary. This may include a neurological examination, imaging studies such as CT or MRI scans, and molecular analysis of the pathogenic gene [8].