cerebellar ataxia type 43

Cerebellar Ataxia Type 43 (SCA43): A Rare Neurological Disorder

Cerebellar ataxia type 43, also known as spinocerebellar ataxia-43 (SCA43), is a rare autosomal dominant neurologic disorder characterized by adult-onset gait and limb ataxia. This condition is often associated with peripheral neuropathy, mainly affecting the motor system.

Key Features:

• Adult-onset: SCA43 typically presents in adulthood, with symptoms developing gradually over time.
• Gait and limb ataxia: Patients experience difficulty walking (gait disturbances) and coordination problems in their limbs.
• Peripheral neuropathy: The condition is often associated with peripheral neuropathy, which affects the motor system and can lead to reduced or absent deep tendon reflexes.
• Distal sensory impairment: Some patients may also experience distal sensory impairment, affecting the sensation in their hands and feet.

Symptoms:

• Balance and gait disturbances
• Reduced/absent deep tendon reflexes
• Sensory impairment (distal)
• Lower limb pain
• Amyotrophy (muscle wasting)
• Dysarthria (speech difficulties)
• Nystagmus (abnormal eye movements)

References:

• [1] Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016).
• [2] Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment.
• [3] Spinocerebellar ataxia-43 (SCA43) is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016).

Cerebellar Ataxia Type 43 (SCA43) Signs and Symptoms

Cerebellar ataxia type 43, also known as SCA43, is a slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia. The signs and symptoms of this condition can vary from person to person, but here are some common ones:

• Gait disturbances: People with SCA43 may experience difficulty walking or maintaining balance.
• Limb ataxia: This refers to a lack of coordination in the arms and legs, which can lead to clumsiness and difficulty performing fine motor tasks.
• Lower limb pain and amyotrophy: Some individuals may experience pain and muscle wasting in their lower limbs.
• Cerebellar signs: These include:
  • Dysarthria: Difficulty speaking or slurred speech.
  • Nystagmus: Abnormal eye movements, which can be horizontal, vertical, or rotary.
  • Hypometric saccades: Slow and inaccurate eye movements.
  • Tremor: Shaking or trembling of the hands or other parts of the body.

These symptoms are often progressive, meaning they worsen over time. However, the rate at which they progress can vary significantly from person to person.

References:

• [3] Spinocerebellar ataxia-43 (SCA43) is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia.
• [7] Signs and symptoms​​ Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and is often ...
• [6] Symptoms include balance and gait disturbances, reduced/absent deep tendon reflexes, sensory impairment, lower limb pain, amyotrophy, dysarthria, nystagmus, ...

Diagnostic Tests for Spinocerebellar Ataxia Type 43 (SCA43)

Spinocerebellar ataxia type 43 (SCA43) is a rare and slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia. Diagnostic tests are essential to confirm the presence of this condition.

Genetic Testing

• Genetic testing for SCA43 involves assessing CAG repeat expansions within specific genes, including ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7 [7].
• This test is useful for diagnostic or predictive testing when clinical symptoms or a family history are specific to only one type of spinocerebellar ataxia [8].

Other Diagnostic Modalities

• Electrophysiology, oculomotor, and vestibular function testing can be invaluable in accurately defining the extent of neurological impairment [6].
• These tests may help identify various cerebellar signs, including dysarthria, nystagmus, hypometric saccades, and tremor [1][3][5].

Important Considerations

• The type of spinocerebellar ataxia (SCA) to be assessed (SCA1, 2, 3, 6, or 7) is required for testing to be performed [11].
• This information must be provided by the healthcare provider or patient for accurate diagnosis and testing.

References

[1] Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor. ORPHA: ... [2] Spinocerebellar ataxia-43 (SCA43) is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia. [3] Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor. Synonyms. [5] Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor. [6] by LJ Roberts · 2022 · Cited by 7 — Objective diagnostic modalities including electrophysiology, oculomotor, and vestibular function testing are invaluable in accurately defining ... [7] This test assesses for CAG repeat expansions within the ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7 genes, associated with spinocerebellar ataxia (SCA) type 1. [8] Useful

Current Drug Treatments for Cerebellar Ataxia Type 43

Cerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment.

Unfortunately, there are no FDA-approved medications specifically for the treatment of Cerebellar Ataxia Type 43.

However, some studies suggest that certain medications may provide

Differential Diagnosis of Spinocerebellar Ataxia Type 43 (SCA43)

Spinocerebellar ataxia type 43 (SCA43) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive gait and limb ataxia. When considering the differential diagnosis for SCA43, several conditions should be taken into account.

• Other Spinocerebellar Ataxias: The differential diagnosis of SCA43 includes other spinocerebellar ataxias (SCAs), such as SCA1, SCA2, and SCA3. These SCAs are also autosomal dominant and share similar clinical features with SCA43.
• Autosomal Dominant Cerebellar Ataxia: This condition is a broad term that encompasses various forms of autosomal dominant cerebellar ataxias, including SCA43. The differential diagnosis for ADCA includes other conditions such as SCA1, SCA2, and SCA3.
• Friedreich's Ataxia (FRDA): FRDA is an autosomal recessive disorder that can present with similar clinical features to SCA43, including progressive gait and limb ataxia. However, FRDA typically presents in childhood or adolescence, whereas SCA43 usually has a later age of onset.
• Ataxia-Telangiectasia (AT): AT is another autosomal recessive disorder that can present with cerebellar ataxia as one of its clinical features. However, AT is characterized by the presence of telangiectasias and immune system dysfunction.

Key Features for Differential Diagnosis

When considering the differential diagnosis for SCA43, it is essential to take into account the following key features:

• Age of onset: SCA43 typically presents in adulthood, whereas FRDA and AT usually present in childhood or adolescence.
• Progression rate: SCA43 is characterized by a slow progression rate, whereas FRDA and AT can have a more rapid progression.
• Clinical features: SCA43 is primarily characterized by gait and limb ataxia, whereas FRDA and AT can present with a broader range of clinical features, including telangiectasias and immune system dysfunction.

Conclusion

In conclusion, the differential diagnosis for spinocerebellar ataxia type 43 (SCA43) includes other forms of autosomal dominant cerebellar ataxias, as well as autosomal recessive disorders such as Friedreich's ataxia and ataxia-telangiectasia. A thorough evaluation of key features, including age of onset, progression rate, and clinical features, is essential for accurate differential diagnosis.