Friedreich's ataxia differential diagnosis: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Friedreich's ataxia}} | {{Friedreich's ataxia}} | ||
{{CMG}} ; {{AE}} | {{CMG}} ; {{AE}}[[User:M Jahan|Mohamadmostafa Jahansouz M.D.]][[Mailto:mjahanso@bidmc.harvard.edu|[2]]] | ||
==Overview== | ==Overview== | ||
==Differentiating Friedreich’s ataxia from other Diseases== | ==Differentiating Friedreich’s ataxia from other Diseases== | ||
As Friedreich’s ataxia manifests in a variety of clinical forms and different ages, differentiation must be established in accordance with the manifestations of the disease and onset of the symptoms. | As Friedreich’s ataxia manifests in a variety of clinical forms and different ages, differentiation must be established in accordance with the manifestations of the disease and onset of the symptoms. | ||
The main and most prominent symptom of the Friedreich’s ataxia is ataxia that worsens over time and it must be differentiated from other diseases that cause progressive ataxia such as: | The main and most prominent symptom of the Friedreich’s ataxia is [[ataxia]] that worsens over time and it must be differentiated from other diseases that cause progressive [[ataxia]] such as: | ||
* Spinocerebellar ataxias (SCA) | *[[Spinocerebellar ataxia|Spinocerebellar ataxias (SCA)]] | ||
* Dentato-rubro-pallido-luysian atrophy | *[[Dentatorubral-pallidoluysian atrophy|Dentato-rubro-pallido-luysian atrophy]] | ||
* Episodic ataxia Spastic ataxia | *[[Episodic ataxia]] | ||
* Abetalipoproteinemia Refsum disease | *[[Spastic ataxia]] | ||
* Hypomyelinating leukoencephalopathy: Hypomyelination, basal ganglia atrophy, rigidity, dystonia, chorea | *[[Abetalipoproteinemia]] | ||
* Pure cerebellar ataxia: Other family members of these patients may have frontotemporal dementia or motor neuron disease | *[[Refsum's disease|Refsum disease]] | ||
* Progressive cerebellar atrophy with epileptic encephalopathy: Infantile seizures, intellectual deficits, microcephaly | *Hypomyelinating leukoencephalopathy: Hypomyelination, [[basal ganglia]] atrophy, rigidity, [[dystonia]], [[chorea]] | ||
* Rapid-onset ataxia: Cerebellar atrophy | *Pure cerebellar ataxia: Other family members of these patients may have [[frontotemporal dementia]] or motor neuron disease | ||
*Progressive cerebellar [[atrophy]] with epileptic [[encephalopathy]]: Infantile [[seizures]], intellectual deficits, [[microcephaly]] | |||
*Rapid-onset ataxia: Cerebellar atrophy | |||
*CAPOS mutation: ([[Cerebellar ataxia]], [[areflexia]], [[Pes cavus]], [[optic atrophy]], [[sensorineural hearing loss]], and [[Alternating hemiplegia|alternating hemiplegia)]] | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 18:07, 15 April 2019
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Friedreich's ataxia Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[[2]]
Overview
Differentiating Friedreich’s ataxia from other Diseases
As Friedreich’s ataxia manifests in a variety of clinical forms and different ages, differentiation must be established in accordance with the manifestations of the disease and onset of the symptoms.
The main and most prominent symptom of the Friedreich’s ataxia is ataxia that worsens over time and it must be differentiated from other diseases that cause progressive ataxia such as:
- Spinocerebellar ataxias (SCA)
- Dentato-rubro-pallido-luysian atrophy
- Episodic ataxia
- Spastic ataxia
- Abetalipoproteinemia
- Refsum disease
- Hypomyelinating leukoencephalopathy: Hypomyelination, basal ganglia atrophy, rigidity, dystonia, chorea
- Pure cerebellar ataxia: Other family members of these patients may have frontotemporal dementia or motor neuron disease
- Progressive cerebellar atrophy with epileptic encephalopathy: Infantile seizures, intellectual deficits, microcephaly
- Rapid-onset ataxia: Cerebellar atrophy
- CAPOS mutation: (Cerebellar ataxia, areflexia, Pes cavus, optic atrophy, sensorineural hearing loss, and alternating hemiplegia)