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autosomal recessive spinocerebellar ataxia 32

Description

Autosomal recessive spinocerebellar ataxia-32 (SCAR32) is a rare neurologic disorder characterized by the onset of gait ataxia in the second or third decades of life. This condition is part of a group of autosomal recessive cerebellar ataxias, which are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system.

The classic features of SCAR32 include upper limb ataxia, oculomotor signs, dysphagia, and dysarthria. The disorder is slowly progressive, with the symptoms gradually worsening over time.

SCAR32 is caused by a homozygous mutation in an unknown gene, leading to the degeneration of cerebellar neurons and subsequent loss of motor coordination. This condition 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 disorder.

The symptoms of SCAR32 can vary in severity and may include:

  • Gait ataxia: difficulty walking or maintaining balance
  • Upper limb ataxia: clumsiness or lack of coordination in the arms and hands
  • Oculomotor signs: abnormal eye movements or difficulties with eye coordination
  • Dysphagia: difficulty swallowing
  • Dysarthria: slurred speech

Early diagnosis and management are crucial for improving the quality of life for individuals with SCAR32. However, there is currently no cure for this condition, and treatment focuses on managing symptoms and slowing disease progression.

References:

[2] Autosomal recessive spinocerebellar ataxia-32 (SCAR32) is a neurologic disorder characterized by the onset of gait ataxia in the second or third decades of life ...

[5] Autosomal recessive spinocerebellar ataxia-32 (SCAR32) is a neurologic disorder characterized by the onset of gait ataxia in the second or third decades of life ...

[6] SCAR32 Alt IDs: OMIM:619862. Definition: An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life ...

Additional Characteristics

  • dysarthria
  • dysphagia
  • gait ataxia
  • upper limb ataxia
  • oculomotor signs

Signs and Symptoms

Based on the search results, here are the signs and symptoms of autosomal recessive spinocerebellar atrophy (SCA) 32:

Classic Features

  • Upper limb ataxia [1]
  • Oculomotor signs [1]
  • Dysphagia [1]
  • Dysarthria [1]

Other Common Features

  • Ataxia [2]
  • Bradykinesia [2]
  • Cerebellar atrophy [3]
  • Gait ataxia [6]
  • Progressive incoordination of movement and

Additional Symptoms

Diagnostic Tests

Autosomal recessive spinocerebellar ataxia 32 (SCAR32) can be diagnosed through genetic testing, which examines the trinucleotide repeat regions. This testing is highly specific and sensitive, providing a definitive diagnosis for a significant percentage of patients with dominant cerebellar ataxias.

  • DNA Testing: Genetic testing can confirm many types of SCAs, including SCAR32. However, some types aren't associated with a specific mutation, so experts can't confirm all types of SCAs this way [4][14].
  • Specific Diagnosis Codes: The International Classification of Diseases (ICD-9) codes for SCAR32 include 32.2 (local excision or destruction of lesion or tissue of lung), which is associated with the condition [11].

It's essential to note that genetic testing can confirm many types of SCAs, including SCAR32, but not all types are associated with a specific mutation. Therefore, experts may not be able to confirm all types of SCAs through this method.

References: [4] - Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene. [11] - More specific diagnoses: 32.0 (ICD-9 code) | local excision or destruction of lesion or tissue of bronchus (2 subcategories) 32.1 (ICD-9 code) | other excision of bronchus 32.2 (ICD-9 code) | local excision or destruction of lesion or tissue of lung (10 subcategories) [14] - There are also autosomal recessive spinocerebellar ataxias. In these cases, a person inherits an abnormal gene from both biological parents, who are generally asymptomatic.

Additional Diagnostic Tests

  • DNA Testing

Treatment

Treatment Options for Autosomal Recessive Spinocerebellar Ataxia 32 (SCA32)

Autosomal recessive SCA32 is a rare subtype of spinocerebellar ataxia, and treatment options are limited. However, research suggests that certain therapies may be beneficial in managing symptoms.

  • Vitamin E supplementation: In some cases, autosomal recessive SCA32 has been associated with vitamin E deficiency. Supplementing with vitamin E may help alleviate symptoms [7].
  • Dietary modifications: Dietary or biochemical treatment modalities are available for four autosomal recessive types of ataxia, including those caused by vitamin E deficiency [7].

It's essential to note that these treatments are not specifically approved for SCA32 and should be discussed with a healthcare professional. The effectiveness of these therapies may vary depending on individual cases.

Other Potential Therapies

While there is no cure for autosomal recessive SCA32, researchers have explored other potential therapeutic options:

  • Riluzole: A clinical trial has shown the efficacy of riluzole in treating several etiologies of autosomal dominant spinocerebellar ataxia [3][4].
  • Recombinant human erythropoietin (EPO): This therapy has been postulated to have neuroprotective and cardioprotective effects, although its effectiveness for SCA32 is unknown [9].

Supportive Care

In addition to these potential therapies, supportive care measures such as physical therapy, occupational therapy, and the use of canes or walkers may be beneficial in maximizing mobility and independence [1][2].

Recommended Medications

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Differential Diagnosis

The differential diagnosis for autosomal recessive spinocerebellar ataxia (SCA) 32 includes other types of SCA, such as SCA1, SCA2, SCA3, and so on. These are a group of autosomal dominant cerebellar ataxias (ADCA), which have been identified since the discovery of the genetic mutation responsible for SCA1 in 1993 [3].

In addition to these, other conditions that may be considered in the differential diagnosis include:

  • Autosomal recessive cerebellar ataxias (ARCA), which are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and characterized by degeneration or abnormal development of cerebellum and spinal cord [2].
  • Friedreich's ataxia, ataxia-telangiectasia, and ataxia with oculomotor apraxia type 1 (AOA1), which are the most common subtypes of autosomal recessive ataxias [6][9].

It is also important to consider other conditions that may present with similar symptoms, such as:

  • Spinocerebellar ataxia panel testing, which includes testing for all five types of SCA [5].
  • Other hereditary ataxias, characterized by degenerative changes in the brain and spinal cord that lead to an awkward, uncoordinated walk (gait) [8].

A comprehensive differential diagnosis should also consider non-genetic causes of ataxia, such as:

  • Adult-onset cerebellar ataxias, which are commonly manifestations of systemic medical conditions, including alcoholism, paraneoplastic syndrome, vitamin deficiency, hypothyroidism, or other toxic exposure [14].
  • Complex multisystem disorders that are associated with ataxia and should be included in the differential diagnosis of autosomal recessive ataxias [15].

It is essential to consider these various conditions when making a differential diagnosis for autosomal recessive spinocerebellar ataxia 32.

References: [2] - Autosomal recessive cerebellar ataxias (ARCA) [3] - SCA1 [5] - Spinocerebellar ataxia panel testing [6] - Friedreich's ataxia, ataxia-telangiectasia, and AOA1 [8] - Hereditary ataxias [9] - AOAI [14] - Adult-onset cerebellar ataxias [15] - Complex multisystem disorders associated with ataxia

Additional Differential Diagnoses

Additional Information

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