Friedreich's ataxia
4 Personal history
سيد فتحي male pt., 52 years old, newspaper seller, from
zagazig, married and has 3 off springs the youngest is 3.5 years old, heavy smoker with no other
special habits of medical importance. Rt. handed
4 c/o
staggering gait since he was 4
years old.
4 HPI
The condition
started since he was 4 years old by gradual onset and progressive course of gait
disturbances , difficulties in speech, kinetic tremors in
both hands and feet with unsteadiness during eye closure.
6 months later, the
patient experienced weakness associated with flaccidity and falling
of hair with brittling of nails
with no twitches or wasting. This weakness affected both LLs. it is in distal more than proximal muscles, in flexor more than extensor muscles, in abductor more than adductor muscles.
The condition was associated with loss of sensation
in both hands and feet and and the patient felt as if he walked on cotton.
No symptoms suggesting cranial
nerve affection.
No symptoms suggesting increased
I.C.T. or sphincteric disturbances.
No symptoms suggesting pulmonary
or systemic congestion or any other symptoms suggesting CVS system affection.
No symptoms suggesting other system
affection.
4 Past history
-
No History of D.M,
HPN, drugs or operations.
4 Family history
-
+Ve family history
(his sister suffers from the same condition).
-
+Ve consanguinity:
2nd degree.
-
No common disease
in family.
4 General exam
-
Temperature: 37.2o c.
-
Bl. Pressure: 120/80.
-
Pulse: regular, 70 beat/minute, average volume, no special character, vessel
wall not felt, equal in both sides with absent peripheral pulsation.
-
Mentality: The patient is fully conscious, well oriented for time, place and
person. Average mood and memory. The patient is co-operative with average intelligence.
-
Head & neck: - Head nodding,
- Bilateral horizontal spontaneous monophasic
nystagmus.
-
UL : intentional kinetic tremors on doing tests of coordination, hypotonia.
-
LL: trophic changes ,weakness of
pyramidal tract distribution, hypotonia, lost ankle with exaggerated knee
reflexes.
4 Examination of Speech: Scanning speech.
4 Examination of Cranial
Nerves: Normal
4 Examination of Motor
System :
4 Inspection__
-
loss of hair and
brittle nails in both L.L.
-
No muscle wasting, no skeletal deformities,
no involuntary movement, no specific posture.
4 Examination of
Tone__
-
Bilateral symmetrical hypotonia in
both upper and lower limbs.
4 Percussion__
No fasciculation or myotonia.
4 Examination of Muscle
Power
-
Normal power in
both upper limbs.
-
Bilateral symmetrical
Weakness in both lower limbs. It is in distal
more than proximal muscles, in abductor more than abductor muscles, in flexor more
than extensor muscles à (weakness of UMNL).
-
Abdominal muscles à normal power.
4 Coordination
-
Coordination
cannot be examined in both lower limbs because of weakness.
-
In both Upper
limbs:
· intentional kinetic tremors in eye proved by finger to nose test, finger to
finger test and finger to doctor's finger test.
· Intenstional kinetic tremors with hypermetria in eye
closure proved by finger to nose test and finger to finger test.
-
Loss of buttoning and unbuttoning.
-
Adiadokokinesia.
-
+Ve rebound
phenomenon.
-
Head nodding
-
Scanning speech
-
Bilateral, monophasic,
horizontal, spontaneous nystagmus (not cerebellar nystagmus).
-
No titubation of
the trunk
4 Reflexes
-
Deep reflexes:
§
In both upper
limbs: normoreflexia.
§
In both lower
limbs: lost ankle (P.N) and exaggerated knee (∆T lesion) with +ve patellar, adductor reflex.
-
Superficial reflexes:
§
+Ve Babinski in
both L.L.
§
Abdominal reflexes:
preserved.
4 Sensory:
-
Superficial
sensations: below knee and elbow stock and
glove anesthesia .
-
Deep sensation:
§
Joint sense lost
on both sides.
§
Vibration sense
lost at level of medial malleolus, ASIS (post column.+ P.N.).
§
Muscle sense lost,
nerve sense lost.
§
+Ve Romberg's test.
-
Cortical sensation : can't be examined due to loss of superficial sensation.
4 Back: Normal
4 Gait: staggering gait.
4 other system examination.
Focus on CVS exam as friedreich's ataxia may be
associated with cardiomyopathy
4 Investigation
-
For the cause: imaging
(C.T & MRI).
-
For association: ECG,
Echo, CXR, Bl. glucose.
4 Treatment
4 Diagnosis :
A case of heridofamilial ataxia for D.D, most probably Friedreich's
ataxia
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