Harding ataxia: Difference between revisions

Harding ataxia
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Ataxia, dysarthria, muscle weakness, spasticity
Complications	N/A
Onset	Typically in childhood or adolescence
Duration	Chronic
Types	N/A
Causes	Genetic mutation
Risks	Family history of the condition
Diagnosis	Genetic testing, neurological examination
Differential diagnosis	Friedreich's ataxia, spinocerebellar ataxia
Prevention	N/A
Treatment	Physical therapy, occupational therapy, speech therapy
Medication	N/A
Prognosis	Variable, depends on severity and progression
Frequency	Rare
Deaths	N/A

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Latest revision as of 20:23, 6 April 2025

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Harding Ataxia is a rare, genetic, neurological disorder characterized by the progressive loss of balance and coordination (ataxia), involuntary eye movements (nystagmus), and abnormal speech (dysarthria).

Symptoms[edit]

The symptoms of Harding Ataxia typically begin in early adulthood and may include:

Ataxia - This is the primary symptom of Harding Ataxia. It is characterized by a lack of muscle control during voluntary movements, resulting in a lack of balance and coordination.
Nystagmus - This is a condition that causes involuntary eye movements. In people with Harding Ataxia, these movements can be rapid and uncontrollable.
Dysarthria - This is a condition that affects the muscles that produce speech, resulting in slurred or slow speech that can be difficult to understand.

Causes[edit]

Harding Ataxia is caused by mutations in the CACNA1A gene. This gene provides instructions for making a protein that is involved in the transport of calcium ions into cells. The mutations that cause Harding Ataxia result in a reduction of this protein, which disrupts the normal function of nerve cells, leading to the symptoms of the disorder.

Diagnosis[edit]

The diagnosis of Harding Ataxia is based on the presence of characteristic neurological symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include:

Genetic testing - This can confirm a diagnosis by identifying a mutation in the CACNA1A gene.
Neurological examination - This may include tests of balance, coordination, and eye movements.

Treatment[edit]

There is currently no cure for Harding Ataxia. Treatment is symptomatic and supportive, and may include:

Physical therapy - This can help improve balance and coordination.
Speech therapy - This can help manage dysarthria.
Medication - Certain medications may be used to manage symptoms such as tremors or muscle stiffness.

@@ Line 1: / Line 1: @@
+{{SI}}
+{{Infobox medical condition
+| name            = Harding ataxia
+| image           = [[File:autorecessive.svg|200px]]
+| image_size      = 200px
+| alt             =
+| caption         = Harding ataxia is inherited in an [[autosomal recessive]] manner
+| field           = [[Neurology]]
+| symptoms        = [[Ataxia]], [[dysarthria]], [[muscle weakness]], [[spasticity]]
+| onset           = Typically in [[childhood]] or [[adolescence]]
+| duration        = [[Chronic (medicine)|Chronic]]
+| causes          = [[Genetic mutation]]
+| risks           = Family history of the condition
+| diagnosis       = [[Genetic testing]], [[neurological examination]]
+| differential    = [[Friedreich's ataxia]], [[spinocerebellar ataxia]]
+| treatment       = [[Physical therapy]], [[occupational therapy]], [[speech therapy]]
+| prognosis       = Variable, depends on severity and progression
+| frequency       = Rare
+}}
 '''Harding Ataxia''' is a rare, genetic, neurological disorder characterized by the progressive loss of balance and coordination (ataxia), involuntary eye movements (nystagmus), and abnormal speech (dysarthria).
 == Symptoms ==
 The symptoms of Harding Ataxia typically begin in early adulthood and may include:
 * '''[[Ataxia]]''' - This is the primary symptom of Harding Ataxia. It is characterized by a lack of muscle control during voluntary movements, resulting in a lack of balance and coordination.
 * '''[[Nystagmus]]''' - This is a condition that causes involuntary eye movements. In people with Harding Ataxia, these movements can be rapid and uncontrollable.
 * '''[[Dysarthria]]''' - This is a condition that affects the muscles that produce speech, resulting in slurred or slow speech that can be difficult to understand.
 == Causes ==
 Harding Ataxia is caused by mutations in the '''[[CACNA1A]]''' gene. This gene provides instructions for making a protein that is involved in the transport of calcium ions into cells. The mutations that cause Harding Ataxia result in a reduction of this protein, which disrupts the normal function of nerve cells, leading to the symptoms of the disorder.
 == Diagnosis ==
 The diagnosis of Harding Ataxia is based on the presence of characteristic neurological symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include:
 * '''[[Genetic testing]]''' - This can confirm a diagnosis by identifying a mutation in the CACNA1A gene.
 * '''[[Neurological examination]]''' - This may include tests of balance, coordination, and eye movements.
 == Treatment ==
 There is currently no cure for Harding Ataxia. Treatment is symptomatic and supportive, and may include:
 * '''[[Physical therapy]]''' - This can help improve balance and coordination.
 * '''[[Speech therapy]]''' - This can help manage dysarthria.
 * '''[[Medication]]''' - Certain medications may be used to manage symptoms such as tremors or muscle stiffness.
 == See also ==
 * [[Ataxia]]
@@ Line 34: / Line 45: @@
 * [[Speech therapy]]
 * [[Medication]]
 [[Category:Neurological disorders]]
 [[Category:Genetic disorders]]
 [[Category:Rare diseases]]
 {{Diseases of the nervous system}}
 {{stub}}
-<gallery>
-File:Autorecessive.svg|Autorecessive
-</gallery>