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.]]<nowiki>[[Mailto:mjahanso@bidmc.harvard.edu|[2]]]</nowiki> | ||
==Overview== | ==Overview== | ||
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 ataxia|spinocerebellar ataxias (SCA)]], [[Dentatorubral-pallidoluysian atrophy|dentato-rubro-pallido-luysian atrophy]], [[Episodic ataxia]], [[Spastic ataxia]], [[Abetalipoproteinemia|abetalipoproteinemia,]] [[Refsum's disease|Refsum disease]], hypomyelinating leukoencephalopathy (Hypomyelination, [[basal ganglia]] atrophy, rigidity, [[dystonia]], [[chorea]]), pure cerebellar ataxia, progressive cerebellar [[atrophy]] with epileptic [[encephalopathy]]: Infantile [[seizures]], intellectual deficits, [[microcephaly]], rapid-onset ataxia: Cerebellar atrophy and CAPOS mutation: ([[Cerebellar ataxia]], [[areflexia]], [[Pes cavus]], [[optic atrophy]], [[sensorineural hearing loss]], and [[Alternating hemiplegia|alternating hemiplegia)]]. | |||
==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. | |||
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:<ref name="pmid20301317">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Bird TD |title= |journal= |volume= |issue= |pages= |date= |pmid=20301317 |doi= |url=}}</ref><ref name="pmid5615168">{{cite journal |vauthors=Canivenc R |title=[Luteal function in the European badger, Meles meles L] |language=French |journal=Arch Anat Microsc Morphol Exp |volume=56 |issue=3 |pages=326–38 |date=1967 |pmid=5615168 |doi= |url=}}</ref><ref name="pmid4251489">{{cite journal |vauthors=Ebel H, De Santo NG, Hierholzer K |title=Plasma cell membranes of the rat kidney. I. Purification and properties of cell membrane ATPase |journal=Pflugers Arch. |volume=324 |issue=1 |pages=1–25 |date=1971 |pmid=4251489 |doi= |url=}}</ref><ref name="pmid4251489">{{cite journal |vauthors=Ebel H, De Santo NG, Hierholzer K |title=Plasma cell membranes of the rat kidney. I. Purification and properties of cell membrane ATPase |journal=Pflugers Arch. |volume=324 |issue=1 |pages=1–25 |date=1971 |pmid=4251489 |doi= |url=}}</ref><ref name="pmid15681888">{{cite journal |vauthors=Jayaram S, Soman A, Tarvade S, Londhe V |title=Cerebellar ataxia due to isolated vitamin E deficiency |journal=Indian J Med Sci |volume=59 |issue=1 |pages=20–3 |date=January 2005 |pmid=15681888 |doi= |url=}}</ref><ref name="pmid14653406">{{cite journal |vauthors=Koenig M |title=Rare forms of autosomal recessive neurodegenerative ataxia |journal=Semin Pediatr Neurol |volume=10 |issue=3 |pages=183–92 |date=September 2003 |pmid=14653406 |doi= |url=}}</ref> | |||
*[[Spinocerebellar ataxia|Spinocerebellar ataxias (SCA)]] | |||
*[[Dentatorubral-pallidoluysian atrophy|Dentato-rubro-pallido-luysian atrophy]] | |||
*[[Episodic ataxia]] | |||
*[[Spastic ataxia]] | |||
*[[Abetalipoproteinemia]] | |||
*[[Refsum's disease|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|alternating hemiplegia)]] | |||
* CAPOS mutation: (Cerebellar ataxia, areflexia, Pes cavus, optic atrophy, sensorineural hearing loss, and alternating hemiplegia) | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Latest revision as of 16:12, 19 April 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[[Mailto:mjahanso@bidmc.harvard.edu|[2]]]
Overview
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, progressive cerebellar atrophy with epileptic encephalopathy: Infantile seizures, intellectual deficits, microcephaly, rapid-onset ataxia: Cerebellar atrophy and CAPOS mutation: (Cerebellar ataxia, areflexia, Pes cavus, optic atrophy, sensorineural hearing loss, and alternating hemiplegia).
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:[1][2][3][3][4][5]
- 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)
References
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Bird TD. PMID 20301317. Vancouver style error: initials (help); Missing or empty
|title=(help) - ↑ Canivenc R (1967). "[Luteal function in the European badger, Meles meles L]". Arch Anat Microsc Morphol Exp (in French). 56 (3): 326–38. PMID 5615168.
- ↑ 3.0 3.1 Ebel H, De Santo NG, Hierholzer K (1971). "Plasma cell membranes of the rat kidney. I. Purification and properties of cell membrane ATPase". Pflugers Arch. 324 (1): 1–25. PMID 4251489.
- ↑ Jayaram S, Soman A, Tarvade S, Londhe V (January 2005). "Cerebellar ataxia due to isolated vitamin E deficiency". Indian J Med Sci. 59 (1): 20–3. PMID 15681888.
- ↑ Koenig M (September 2003). "Rare forms of autosomal recessive neurodegenerative ataxia". Semin Pediatr Neurol. 10 (3): 183–92. PMID 14653406.