SlideShare a Scribd company logo
Hammam Jamal Darabee
• Weakness of the lower limbs and difficulty in walking for 2
years  Corticospinal tract lesion
• Wasting of the muscles of the leg and foot for 2 years 
Peripheral nerve lesion
• Tingling, numbness of the foot for 2 years 
Degeneration of peripheral sensory fibers
• he was reasonably well 3 years back  gradual onset
• Then he has been suffering from progressively increasing,
weakness of both lower limbs , which has become more
severe and he is unable to walk without the help of others.
 progressive
• He also experiences progressive wasting of the muscles of
lower limbs, initially in the foot followed by the leg. 
Peripheral nerve lesion
• The patient also complains of tingling and numbness in both
lower limbs.  Degeneration of peripheral sensory fibers
• There is no history of : head or spine trauma, fever,
headache, convulsion, loss of consciousness or
incontinence of urine. His bowel and bladder habits are
normal
• 4- History of past illness: He suffered from repeated
attacks of respiratory infection and occasional fever over
the past few years.
• 5- Family history: There is no history of similar illness in
the family members.  family history may be present
• 6- Drug and treatment history: For these symptoms, he
took some vitamins.  Ataxia is a potential side effect
of certain medications , Not getting enough vitamin E,
vitamin B-1, vitamin B-12 or thiamine can lead to
ataxia. A deficiency or excess of Vitamin B-6
deficiency also may cause ataxia.
• 7- Personal history: He is a nonsmoker and nonalcoholic
 Alcohol. Long-term excess alcohol intake may cause
persistent ataxia
• The patient is short, ill-looking and anxious
• There is pes cavus.
• kyphoscoliosis .
• Congenital
• Friedreich’s ataxia
• Hereditary motor and sensory neuropathy
• Spinocerebellar degeneration
• Peripheral neuropathy in childhood
• Old poliomyelitis (usually unilateral).
• 1. Higher cerebral functions  staccato speech)
• 2. Cranial nerves: optic atrophy, reduced hearing
• 3. Motor system:
• There is wasting of muscles of both legs
• Muscle tone—diminished in both the lower limbs
• Muscle power—normal in upper limb and diminished in
the lower limbs
• Reflexes:
• Coordination : could not be done due to muscle
weakness Romberg test : positive
• Gait : ataxic gait (cerebellar)
• Involuntary movement : absent.
• 4. Sensory system: vibration, position sense and two
point discrimination are impaired in both the lower limbs
 DCT affected
• 5. Cerebellar signs:
• Speech : scanning
• Horizontal nystagmus in both eyes
• Finger nose test : dysmetria
• Co-ordination : could not be done due to muscle
weakness
• Gait : ataxic gait (cerebellar)
• Dysdiadochokinesia
•  cerebellar ataxia
• CVS examination : cardiomegaly
• Cerebellar lesion
• Spinocerebellar tract
• Posterior column lesion (loss of vibration and position sense)
and dorsal root ganglia lesion
• Degeneration of peripheral sensory fibers
• Corticospinal tract lesion (lateral column lesion)
• Eye (primary optic atrophy).
• And these sites is a sites of lesion in Friedreich’s ataxia .
• In young patient with pes cavus plus combination of
cerebellar lesion (bilateral), UMN lesion (extensor plantar)
and posterior column lesion (loss of vibration and position
senses), is highly suggestive of Friedreich’s ataxia.
• Multiple sclerosis
• Friedreich’s ataxia
• Spinocerebellar degeneration
• Syphilitic meningomyelitis
• Arnold-Chiari malformation.
• CBC, ESR
• Blood sugar (high in 10%)
• Chest X-ray (cardiomegaly)
• ECG (arrhythmia)
• MRI of brain and spinal cord (shows atrophy of
cerebellum and spinal cord)
• nerve conduction study (shows conduction velocity in
motor fibers is normal or mildly reduced, but sensory
action potentials are small or absent).
• It is the most common type of hereditary ataxia,
inherited as autosomal recessive trait, and in some cases
inherited as autosomal dominant.
• Cause—unknown. Mutation of FRDA gene in
chromosome 9. The mutation is abnormal expansion of
trinucleotide repeat within a gene that code for protein
‘Frataxin’, whose function is to prevent intramitochodrial
iron overloading
• Presentations : progressive difficulty in walking (truncal
ataxia and ataxia of lower limbs), weakness of lower
limbs and dysarthria
• Cerebellar signs (dysarthria, nystagmus, intention tremor,
ataxic gait, etc.)
• Diabetes mellitus (common)
• Kyphoscoliosis
• pes cavus
• optic atrophy
• hypertrophic cardiomyopathy (may cause sudden death)
.
• hearing loss
• Normal mentation (may have mild dementia)
• No therapeutic measures are known to alter the natural
history of the neurological disease
• Standard treatment is administered for heart failure,
arrhythmias, and diabetes mellitus.
• High-dose propranolol
• 5-Hydroxytryptophan : serotonin precursor that has been
used for a decade or treat various forms of ataxia with
mixed results , The rationale for use of the drug in FA
was that FA may in part be due to a cerebellar deficiency
of serotonin.
• Surgical Care : for scoliosis and foot deformities that may
be helpful in selected cases
• usually progresses slowly, death occurs before 40 years
of age (usually 20 years after the onset of symptoms
due to cardiac and respiratory complications)
• Become chair—bound 9 to 15 years after onset of
symptoms.
• May be static and survive up to 60 years.
• Vitamin B12 deficiency
• Hypomagnesemia
• Folic acid deficiency
• Post infectious
• Toxic
• Idiopathic
Friedreich’s ataxia.pptx

More Related Content

Similar to Friedreich’s ataxia.pptx

28391890-22213745-Muscular-Dystrophy.ppt
28391890-22213745-Muscular-Dystrophy.ppt28391890-22213745-Muscular-Dystrophy.ppt
28391890-22213745-Muscular-Dystrophy.ppt
SrajanKashyap2
 
Ataxia shyam
Ataxia shyamAtaxia shyam
Ataxia shyam
Dr Praman Kushwah
 
Ataxia seminar
Ataxia seminarAtaxia seminar
Ataxia seminar
Dr Praman Kushwah
 
Approach to Peripheral neuropathy
Approach to Peripheral neuropathyApproach to Peripheral neuropathy
Approach to Peripheral neuropathy
YMC Medicine
 
Cerebellar Disorders Presentatuin slide.pptx
Cerebellar Disorders Presentatuin slide.pptxCerebellar Disorders Presentatuin slide.pptx
Cerebellar Disorders Presentatuin slide.pptx
UzomaBende
 
CEREBRAL PALSY.pptx
CEREBRAL PALSY.pptxCEREBRAL PALSY.pptx
CEREBRAL PALSY.pptx
Rohan Gupta
 
CP PPT.pptx
CP PPT.pptxCP PPT.pptx
CP PPT.pptx
Shilpa Joshi
 
Approach to Peripheral Neuropathy
Approach to Peripheral NeuropathyApproach to Peripheral Neuropathy
Approach to Peripheral Neuropathy
Anand Nambirajan
 
Hypokinetic Movement Disorders - Parkinson disease
Hypokinetic Movement Disorders - Parkinson diseaseHypokinetic Movement Disorders - Parkinson disease
Hypokinetic Movement Disorders - Parkinson disease
Chetan Ganteppanavar
 
Cerebral palsy
Cerebral palsyCerebral palsy
Cerebral palsy
Saifuddin Ahmed
 
CEREBELLAR DISEASES AND ATAXIA.pptx
CEREBELLAR DISEASES AND ATAXIA.pptxCEREBELLAR DISEASES AND ATAXIA.pptx
CEREBELLAR DISEASES AND ATAXIA.pptx
Dr. Muzahid
 
Muscular dystrophy
Muscular dystrophyMuscular dystrophy
Muscular dystrophy
Shoryu Nae
 
Stroke
Stroke Stroke
Stroke
Tafzz Sailo
 
Gait disorders
Gait disordersGait disorders
Gait disorders
Sruthi Meenaxshi
 
Overview of Epilepsy and types of seizures.ppt
Overview of Epilepsy and types of seizures.pptOverview of Epilepsy and types of seizures.ppt
Overview of Epilepsy and types of seizures.ppt
drn00r
 
Spinal cord injuries
Spinal cord injuriesSpinal cord injuries
Spinal cord injuries
Fatima Mangrio
 
CP.ppt
CP.pptCP.ppt
CP.ppt
SaniaSaeed56
 
Multiple Sclerosis
Multiple SclerosisMultiple Sclerosis
Cp(disorders of movement)
Cp(disorders of movement)Cp(disorders of movement)
Cp(disorders of movement)
HimaniBansal15
 
Cerebral Palsy
Cerebral Palsy Cerebral Palsy
Cerebral Palsy
Ida Corvera
 

Similar to Friedreich’s ataxia.pptx (20)

28391890-22213745-Muscular-Dystrophy.ppt
28391890-22213745-Muscular-Dystrophy.ppt28391890-22213745-Muscular-Dystrophy.ppt
28391890-22213745-Muscular-Dystrophy.ppt
 
Ataxia shyam
Ataxia shyamAtaxia shyam
Ataxia shyam
 
Ataxia seminar
Ataxia seminarAtaxia seminar
Ataxia seminar
 
Approach to Peripheral neuropathy
Approach to Peripheral neuropathyApproach to Peripheral neuropathy
Approach to Peripheral neuropathy
 
Cerebellar Disorders Presentatuin slide.pptx
Cerebellar Disorders Presentatuin slide.pptxCerebellar Disorders Presentatuin slide.pptx
Cerebellar Disorders Presentatuin slide.pptx
 
CEREBRAL PALSY.pptx
CEREBRAL PALSY.pptxCEREBRAL PALSY.pptx
CEREBRAL PALSY.pptx
 
CP PPT.pptx
CP PPT.pptxCP PPT.pptx
CP PPT.pptx
 
Approach to Peripheral Neuropathy
Approach to Peripheral NeuropathyApproach to Peripheral Neuropathy
Approach to Peripheral Neuropathy
 
Hypokinetic Movement Disorders - Parkinson disease
Hypokinetic Movement Disorders - Parkinson diseaseHypokinetic Movement Disorders - Parkinson disease
Hypokinetic Movement Disorders - Parkinson disease
 
Cerebral palsy
Cerebral palsyCerebral palsy
Cerebral palsy
 
CEREBELLAR DISEASES AND ATAXIA.pptx
CEREBELLAR DISEASES AND ATAXIA.pptxCEREBELLAR DISEASES AND ATAXIA.pptx
CEREBELLAR DISEASES AND ATAXIA.pptx
 
Muscular dystrophy
Muscular dystrophyMuscular dystrophy
Muscular dystrophy
 
Stroke
Stroke Stroke
Stroke
 
Gait disorders
Gait disordersGait disorders
Gait disorders
 
Overview of Epilepsy and types of seizures.ppt
Overview of Epilepsy and types of seizures.pptOverview of Epilepsy and types of seizures.ppt
Overview of Epilepsy and types of seizures.ppt
 
Spinal cord injuries
Spinal cord injuriesSpinal cord injuries
Spinal cord injuries
 
CP.ppt
CP.pptCP.ppt
CP.ppt
 
Multiple Sclerosis
Multiple SclerosisMultiple Sclerosis
Multiple Sclerosis
 
Cp(disorders of movement)
Cp(disorders of movement)Cp(disorders of movement)
Cp(disorders of movement)
 
Cerebral Palsy
Cerebral Palsy Cerebral Palsy
Cerebral Palsy
 

Recently uploaded

快速办理(UAM毕业证书)马德里自治大学毕业证学位证一模一样
快速办理(UAM毕业证书)马德里自治大学毕业证学位证一模一样快速办理(UAM毕业证书)马德里自治大学毕业证学位证一模一样
快速办理(UAM毕业证书)马德里自治大学毕业证学位证一模一样
hozt8xgk
 
aziz sancar nobel prize winner: from mardin to nobel
aziz sancar nobel prize winner: from mardin to nobelaziz sancar nobel prize winner: from mardin to nobel
aziz sancar nobel prize winner: from mardin to nobel
İsa Badur
 
在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样
在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样
在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样
vluwdy49
 
The use of Nauplii and metanauplii artemia in aquaculture (brine shrimp).pptx
The use of Nauplii and metanauplii artemia in aquaculture (brine shrimp).pptxThe use of Nauplii and metanauplii artemia in aquaculture (brine shrimp).pptx
The use of Nauplii and metanauplii artemia in aquaculture (brine shrimp).pptx
MAGOTI ERNEST
 
8.Isolation of pure cultures and preservation of cultures.pdf
8.Isolation of pure cultures and preservation of cultures.pdf8.Isolation of pure cultures and preservation of cultures.pdf
8.Isolation of pure cultures and preservation of cultures.pdf
by6843629
 
waterlessdyeingtechnolgyusing carbon dioxide chemicalspdf
waterlessdyeingtechnolgyusing carbon dioxide chemicalspdfwaterlessdyeingtechnolgyusing carbon dioxide chemicalspdf
waterlessdyeingtechnolgyusing carbon dioxide chemicalspdf
LengamoLAppostilic
 
Oedema_types_causes_pathophysiology.pptx
Oedema_types_causes_pathophysiology.pptxOedema_types_causes_pathophysiology.pptx
Oedema_types_causes_pathophysiology.pptx
muralinath2
 
Eukaryotic Transcription Presentation.pptx
Eukaryotic Transcription Presentation.pptxEukaryotic Transcription Presentation.pptx
Eukaryotic Transcription Presentation.pptx
RitabrataSarkar3
 
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
Leonel Morgado
 
Shallowest Oil Discovery of Turkiye.pptx
Shallowest Oil Discovery of Turkiye.pptxShallowest Oil Discovery of Turkiye.pptx
Shallowest Oil Discovery of Turkiye.pptx
Gokturk Mehmet Dilci
 
Thornton ESPP slides UK WW Network 4_6_24.pdf
Thornton ESPP slides UK WW Network 4_6_24.pdfThornton ESPP slides UK WW Network 4_6_24.pdf
Thornton ESPP slides UK WW Network 4_6_24.pdf
European Sustainable Phosphorus Platform
 
Remote Sensing and Computational, Evolutionary, Supercomputing, and Intellige...
Remote Sensing and Computational, Evolutionary, Supercomputing, and Intellige...Remote Sensing and Computational, Evolutionary, Supercomputing, and Intellige...
Remote Sensing and Computational, Evolutionary, Supercomputing, and Intellige...
University of Maribor
 
molar-distalization in orthodontics-seminar.pptx
molar-distalization in orthodontics-seminar.pptxmolar-distalization in orthodontics-seminar.pptx
molar-distalization in orthodontics-seminar.pptx
Anagha Prasad
 
Sciences of Europe journal No 142 (2024)
Sciences of Europe journal No 142 (2024)Sciences of Europe journal No 142 (2024)
Sciences of Europe journal No 142 (2024)
Sciences of Europe
 
Equivariant neural networks and representation theory
Equivariant neural networks and representation theoryEquivariant neural networks and representation theory
Equivariant neural networks and representation theory
Daniel Tubbenhauer
 
ESA/ACT Science Coffee: Diego Blas - Gravitational wave detection with orbita...
ESA/ACT Science Coffee: Diego Blas - Gravitational wave detection with orbita...ESA/ACT Science Coffee: Diego Blas - Gravitational wave detection with orbita...
ESA/ACT Science Coffee: Diego Blas - Gravitational wave detection with orbita...
Advanced-Concepts-Team
 
Authoring a personal GPT for your research and practice: How we created the Q...
Authoring a personal GPT for your research and practice: How we created the Q...Authoring a personal GPT for your research and practice: How we created the Q...
Authoring a personal GPT for your research and practice: How we created the Q...
Leonel Morgado
 
Randomised Optimisation Algorithms in DAPHNE
Randomised Optimisation Algorithms in DAPHNERandomised Optimisation Algorithms in DAPHNE
Randomised Optimisation Algorithms in DAPHNE
University of Maribor
 
The binding of cosmological structures by massless topological defects
The binding of cosmological structures by massless topological defectsThe binding of cosmological structures by massless topological defects
The binding of cosmological structures by massless topological defects
Sérgio Sacani
 
Applied Science: Thermodynamics, Laws & Methodology.pdf
Applied Science: Thermodynamics, Laws & Methodology.pdfApplied Science: Thermodynamics, Laws & Methodology.pdf
Applied Science: Thermodynamics, Laws & Methodology.pdf
University of Hertfordshire
 

Recently uploaded (20)

快速办理(UAM毕业证书)马德里自治大学毕业证学位证一模一样
快速办理(UAM毕业证书)马德里自治大学毕业证学位证一模一样快速办理(UAM毕业证书)马德里自治大学毕业证学位证一模一样
快速办理(UAM毕业证书)马德里自治大学毕业证学位证一模一样
 
aziz sancar nobel prize winner: from mardin to nobel
aziz sancar nobel prize winner: from mardin to nobelaziz sancar nobel prize winner: from mardin to nobel
aziz sancar nobel prize winner: from mardin to nobel
 
在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样
在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样
在线办理(salfor毕业证书)索尔福德大学毕业证毕业完成信一模一样
 
The use of Nauplii and metanauplii artemia in aquaculture (brine shrimp).pptx
The use of Nauplii and metanauplii artemia in aquaculture (brine shrimp).pptxThe use of Nauplii and metanauplii artemia in aquaculture (brine shrimp).pptx
The use of Nauplii and metanauplii artemia in aquaculture (brine shrimp).pptx
 
8.Isolation of pure cultures and preservation of cultures.pdf
8.Isolation of pure cultures and preservation of cultures.pdf8.Isolation of pure cultures and preservation of cultures.pdf
8.Isolation of pure cultures and preservation of cultures.pdf
 
waterlessdyeingtechnolgyusing carbon dioxide chemicalspdf
waterlessdyeingtechnolgyusing carbon dioxide chemicalspdfwaterlessdyeingtechnolgyusing carbon dioxide chemicalspdf
waterlessdyeingtechnolgyusing carbon dioxide chemicalspdf
 
Oedema_types_causes_pathophysiology.pptx
Oedema_types_causes_pathophysiology.pptxOedema_types_causes_pathophysiology.pptx
Oedema_types_causes_pathophysiology.pptx
 
Eukaryotic Transcription Presentation.pptx
Eukaryotic Transcription Presentation.pptxEukaryotic Transcription Presentation.pptx
Eukaryotic Transcription Presentation.pptx
 
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...
 
Shallowest Oil Discovery of Turkiye.pptx
Shallowest Oil Discovery of Turkiye.pptxShallowest Oil Discovery of Turkiye.pptx
Shallowest Oil Discovery of Turkiye.pptx
 
Thornton ESPP slides UK WW Network 4_6_24.pdf
Thornton ESPP slides UK WW Network 4_6_24.pdfThornton ESPP slides UK WW Network 4_6_24.pdf
Thornton ESPP slides UK WW Network 4_6_24.pdf
 
Remote Sensing and Computational, Evolutionary, Supercomputing, and Intellige...
Remote Sensing and Computational, Evolutionary, Supercomputing, and Intellige...Remote Sensing and Computational, Evolutionary, Supercomputing, and Intellige...
Remote Sensing and Computational, Evolutionary, Supercomputing, and Intellige...
 
molar-distalization in orthodontics-seminar.pptx
molar-distalization in orthodontics-seminar.pptxmolar-distalization in orthodontics-seminar.pptx
molar-distalization in orthodontics-seminar.pptx
 
Sciences of Europe journal No 142 (2024)
Sciences of Europe journal No 142 (2024)Sciences of Europe journal No 142 (2024)
Sciences of Europe journal No 142 (2024)
 
Equivariant neural networks and representation theory
Equivariant neural networks and representation theoryEquivariant neural networks and representation theory
Equivariant neural networks and representation theory
 
ESA/ACT Science Coffee: Diego Blas - Gravitational wave detection with orbita...
ESA/ACT Science Coffee: Diego Blas - Gravitational wave detection with orbita...ESA/ACT Science Coffee: Diego Blas - Gravitational wave detection with orbita...
ESA/ACT Science Coffee: Diego Blas - Gravitational wave detection with orbita...
 
Authoring a personal GPT for your research and practice: How we created the Q...
Authoring a personal GPT for your research and practice: How we created the Q...Authoring a personal GPT for your research and practice: How we created the Q...
Authoring a personal GPT for your research and practice: How we created the Q...
 
Randomised Optimisation Algorithms in DAPHNE
Randomised Optimisation Algorithms in DAPHNERandomised Optimisation Algorithms in DAPHNE
Randomised Optimisation Algorithms in DAPHNE
 
The binding of cosmological structures by massless topological defects
The binding of cosmological structures by massless topological defectsThe binding of cosmological structures by massless topological defects
The binding of cosmological structures by massless topological defects
 
Applied Science: Thermodynamics, Laws & Methodology.pdf
Applied Science: Thermodynamics, Laws & Methodology.pdfApplied Science: Thermodynamics, Laws & Methodology.pdf
Applied Science: Thermodynamics, Laws & Methodology.pdf
 

Friedreich’s ataxia.pptx

  • 2.
  • 3. • Weakness of the lower limbs and difficulty in walking for 2 years  Corticospinal tract lesion • Wasting of the muscles of the leg and foot for 2 years  Peripheral nerve lesion • Tingling, numbness of the foot for 2 years  Degeneration of peripheral sensory fibers
  • 4. • he was reasonably well 3 years back  gradual onset • Then he has been suffering from progressively increasing, weakness of both lower limbs , which has become more severe and he is unable to walk without the help of others.  progressive • He also experiences progressive wasting of the muscles of lower limbs, initially in the foot followed by the leg.  Peripheral nerve lesion • The patient also complains of tingling and numbness in both lower limbs.  Degeneration of peripheral sensory fibers • There is no history of : head or spine trauma, fever, headache, convulsion, loss of consciousness or incontinence of urine. His bowel and bladder habits are normal
  • 5. • 4- History of past illness: He suffered from repeated attacks of respiratory infection and occasional fever over the past few years. • 5- Family history: There is no history of similar illness in the family members.  family history may be present • 6- Drug and treatment history: For these symptoms, he took some vitamins.  Ataxia is a potential side effect of certain medications , Not getting enough vitamin E, vitamin B-1, vitamin B-12 or thiamine can lead to ataxia. A deficiency or excess of Vitamin B-6 deficiency also may cause ataxia. • 7- Personal history: He is a nonsmoker and nonalcoholic  Alcohol. Long-term excess alcohol intake may cause persistent ataxia
  • 6. • The patient is short, ill-looking and anxious • There is pes cavus. • kyphoscoliosis .
  • 7. • Congenital • Friedreich’s ataxia • Hereditary motor and sensory neuropathy • Spinocerebellar degeneration • Peripheral neuropathy in childhood • Old poliomyelitis (usually unilateral).
  • 8. • 1. Higher cerebral functions  staccato speech) • 2. Cranial nerves: optic atrophy, reduced hearing • 3. Motor system: • There is wasting of muscles of both legs • Muscle tone—diminished in both the lower limbs • Muscle power—normal in upper limb and diminished in the lower limbs • Reflexes: • Coordination : could not be done due to muscle weakness Romberg test : positive • Gait : ataxic gait (cerebellar) • Involuntary movement : absent.
  • 9. • 4. Sensory system: vibration, position sense and two point discrimination are impaired in both the lower limbs  DCT affected • 5. Cerebellar signs: • Speech : scanning • Horizontal nystagmus in both eyes • Finger nose test : dysmetria • Co-ordination : could not be done due to muscle weakness • Gait : ataxic gait (cerebellar) • Dysdiadochokinesia •  cerebellar ataxia • CVS examination : cardiomegaly
  • 10. • Cerebellar lesion • Spinocerebellar tract • Posterior column lesion (loss of vibration and position sense) and dorsal root ganglia lesion • Degeneration of peripheral sensory fibers • Corticospinal tract lesion (lateral column lesion) • Eye (primary optic atrophy). • And these sites is a sites of lesion in Friedreich’s ataxia . • In young patient with pes cavus plus combination of cerebellar lesion (bilateral), UMN lesion (extensor plantar) and posterior column lesion (loss of vibration and position senses), is highly suggestive of Friedreich’s ataxia.
  • 11. • Multiple sclerosis • Friedreich’s ataxia • Spinocerebellar degeneration • Syphilitic meningomyelitis • Arnold-Chiari malformation.
  • 12. • CBC, ESR • Blood sugar (high in 10%) • Chest X-ray (cardiomegaly) • ECG (arrhythmia) • MRI of brain and spinal cord (shows atrophy of cerebellum and spinal cord) • nerve conduction study (shows conduction velocity in motor fibers is normal or mildly reduced, but sensory action potentials are small or absent).
  • 13. • It is the most common type of hereditary ataxia, inherited as autosomal recessive trait, and in some cases inherited as autosomal dominant. • Cause—unknown. Mutation of FRDA gene in chromosome 9. The mutation is abnormal expansion of trinucleotide repeat within a gene that code for protein ‘Frataxin’, whose function is to prevent intramitochodrial iron overloading • Presentations : progressive difficulty in walking (truncal ataxia and ataxia of lower limbs), weakness of lower limbs and dysarthria • Cerebellar signs (dysarthria, nystagmus, intention tremor, ataxic gait, etc.)
  • 14. • Diabetes mellitus (common) • Kyphoscoliosis • pes cavus • optic atrophy • hypertrophic cardiomyopathy (may cause sudden death) . • hearing loss • Normal mentation (may have mild dementia)
  • 15. • No therapeutic measures are known to alter the natural history of the neurological disease • Standard treatment is administered for heart failure, arrhythmias, and diabetes mellitus. • High-dose propranolol • 5-Hydroxytryptophan : serotonin precursor that has been used for a decade or treat various forms of ataxia with mixed results , The rationale for use of the drug in FA was that FA may in part be due to a cerebellar deficiency of serotonin. • Surgical Care : for scoliosis and foot deformities that may be helpful in selected cases
  • 16. • usually progresses slowly, death occurs before 40 years of age (usually 20 years after the onset of symptoms due to cardiac and respiratory complications) • Become chair—bound 9 to 15 years after onset of symptoms. • May be static and survive up to 60 years.
  • 17. • Vitamin B12 deficiency • Hypomagnesemia • Folic acid deficiency • Post infectious • Toxic • Idiopathic