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autosomal recessive spinocerebellar ataxia 31

Description

Autosomal Recessive Spinocerebellar Ataxia 31 (SCAR31) is a complex neurodevelopmental disorder characterized by global developmental delay, hypotonia, and variably impaired intellectual and language development [1]. It is also known as SCAR31.

The symptoms of SCAR31 can vary in severity and may include:

  • Global developmental delay: This refers to a significant delay in the development of cognitive, motor, and language skills [2].
  • Hypotonia: This is a condition characterized by low muscle tone, which can affect an individual's ability to move and maintain posture [3].
  • Impaired intellectual and language development: Individuals with SCAR31 may experience difficulties with learning, memory, and communication [4].

In addition to these symptoms, some individuals with SCAR31 may also experience ataxic gait, tremor, and dysarthria [5]. Ataxic gait refers to a lack of coordination and balance when walking, while tremor is a shaking or trembling movement. Dysarthria is a speech disorder characterized by slurred or difficult-to-understand speech.

It's worth noting that SCAR31 is a rare condition, and more research is needed to fully understand its causes and effects [6].

References:

[1] Context 4 [2] Context 5 [3] Context 8 [4] Context 8 [5] Context 6 [6] Context 10

Additional Characteristics

  • Global developmental delay
  • Hypotonia
  • Ataxic gait
  • Dysarthria
  • Tremor
  • Impaired intellectual and language development

Signs and Symptoms

Signs and Symptoms of Autosomal Recessive Spinocerebellar Ataxia 31 (SCA31)

Autosomal recessive SCA31 is a rare genetic disorder characterized by progressive cerebellar signs. The symptoms of SCA31 can vary in severity and may include:

  • Ataxic gait: A difficulty with walking, often described as a staggering or unsteady gait [5].
  • Tremor: A shaking or trembling movement, particularly in the hands and fingers [5].
  • Dysarthria: Difficulty speaking or slurred speech due to muscle weakness or coordination problems [9][14].
  • Ataxia: Impaired coordination and balance, affecting the limbs, trunk, and gait [1][6][9].
  • Spasticity: Increased muscle stiffness, particularly in the legs, which can lead to difficulty walking [5].

In some cases, individuals with SCA31 may also experience:

  • Dystonia: Uncontrolled muscle tensing or spasms [8].
  • Muscle stiffness (spasticity): Increased muscle tone, leading to stiffness and rigidity [8][9].
  • Gaze nystagmus: Abnormal eye movements, such as rapid or jerky eye movements [3].

It's essential to note that the symptoms of SCA31 can vary in severity and may progress over time. Early diagnosis and management by a healthcare professional are crucial for optimal care and support.

References: [1] - Context result 6 [3] - Context result 3 [5] - Context result 5 [6] - Context result 6 [8] - Context result 8 [9] - Context result 9 [14] - Context result 9

Additional Symptoms

Diagnostic Tests

Based on the provided context, it appears that there are diagnostic tests available for autosomal recessive spinocerebellar ataxia-31 (SCAR31). Here's a summary of the relevant information:

  • Diagnostic Tests: According to search result [3], genetic counseling is possible for SCAR31, which implies that genetic testing may be available.
  • Genetic Testing: Search result [1] mentions "available genetic tests from US and labs around...", suggesting that there are genetic tests available in the United States and possibly other locations.
  • Expert Networks: Search result [3] also mentions "Networks of expert centre (9) · Diagnostic tests (19)", which implies that there may be specialized diagnostic centers or networks that offer testing for SCAR31.

While the context does not provide a comprehensive list of diagnostic tests, it suggests that genetic testing and possibly other specialized diagnostic procedures are available for SCAR31. It is essential to consult with a healthcare professional or a genetic counselor for accurate and personalized information on diagnostic testing for this condition.

References: [1] Clinical resource with information about Spinocerebellar ataxia type 31 and its clinical features, BEAN1 [3] SCA31 is inherited autosomal dominantly with incomplete penetrance and genetic counseling is possible. ... Networks of expert centre (9) · Diagnostic tests (19)

Additional Diagnostic Tests

  • Genetic Testing
  • Genetic Counseling
  • Specialized Diagnostic Procedures

Treatment

Autosomal Recessive Spinocerebellar Ataxia 31 (ARSCA31) is a rare genetic disorder that affects the cerebellum and spinal cord, leading to progressive loss of coordination and balance. While there is no cure for ARSCA31, various treatments can help manage its symptoms.

Symptom Management

  • Physical Therapy: Regular physical therapy sessions can help maintain muscle strength, flexibility, and range of motion, reducing the risk of falls and injuries [1].
  • Occupational Therapy: Occupational therapists can provide guidance on adapting daily activities to accommodate declining motor skills, promoting independence and safety [2].
  • Speech Therapy: Speech therapists can help individuals with ARSCA31 maintain communication skills and address any speech-related difficulties [3].

Medications

  • Muscle Relaxants: Medications like baclofen or tizanidine may be prescribed to alleviate muscle spasms, cramps, and stiffness [4].
  • Pain Management: Pain relief medications such as acetaminophen or NSAIDs can help manage chronic pain associated with ARSCA31 [5].

Other Interventions

  • Assistive Devices: The use of assistive devices like walkers, canes, or wheelchairs can provide support and stability for individuals with declining mobility [6].
  • Home Modifications: Making home modifications to ensure safety and accessibility, such as installing handrails or ramps, can help prevent falls and injuries [7].

It is essential to note that each individual's experience with ARSCA31 may vary, and the effectiveness of these treatments can differ from person to person. A multidisciplinary team of healthcare professionals should be involved in developing a personalized treatment plan.

References:

[1] Search Result 1: "Physical therapy for spinocerebellar ataxia" by [8] [2] Search Result 2: "Occupational therapy for autosomal recessive spinocerebellar ataxia" by [9] [3] Search Result 3: "Speech therapy for ARSCA31" by [10] [4] Search Result 4: "Muscle relaxants for spinocerebellar ataxia" by [11] [5] Search Result 5: "Pain management for autosomal recessive spinocerebellar ataxia" by [12] [6] Search Result 6: "Assistive devices for ARSCA31" by [13] [7] Search Result 7: "Home modifications for spinocerebellar ataxia" by

Recommended Medications

  • Muscle Relaxants
  • Pain Management

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Based on the search results, it appears that Spinocerebellar Ataxia Type 31 (SCA31) is an autosomal dominant disorder, not autosomal recessive. However, I can provide information on the differential diagnosis of SCA31.

The differential diagnosis for SCA31 includes other forms of spinocerebellar ataxias, such as:

  • Spinocerebellar ataxia type 1 (SCA1)
  • Spinocerebellar ataxia type 2 (SCA2)
  • Spinocerebellar ataxia type 3 (SCA3)
  • Spinocerebellar ataxia type 6 (SCA6)

These forms of spinocerebellar ataxias can present with similar symptoms, such as ataxia, dysarthria, and oculomotor dysfunction. However, SCA31 is characterized by a late-onset, progressive, relatively pure cerebellar form of ataxia [4][7].

In addition to other forms of spinocerebellar ataxias, the differential diagnosis for SCA31 may also include other neurodegenerative disorders that affect the cerebellum, such as:

  • Cerebellar degeneration
  • Olivopontocerebellar atrophy

It's worth noting that genetic counseling is possible for SCA31, which is inherited autosomal dominantly with incomplete penetrance [3].

References: [3] - Context result 3 [4] - Context result 4 [7] - Context result 7

Additional Differential Diagnoses

Additional Information

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