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.
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.
