case on ataxia-case on final ataxia.pptx

ataxia

1. COMPREHENSIVE CLINICAL CLASS CEREBELLAR ATAXIA PRESENTER : DR.SHEEBA MENTOR : PROF DR.GIRIRAJA

2. Name : XXY Age : 28 yrs Sex : Female Occupation : Housewife Address : Bangalore

3. Chief complaints Difficulty in balancing while walking since 3 and ½ year.

4. PRESENTING ILLNESS Patient was apparently normal 3 and ½ years back when she started having difficulty in balancing while walking, which was slow in onset ,gradually progressive. The imbalance was present on both sides with no lateralisation. It is present through out the day with no nocturnal or diurnal variations. Imbalance is not increased on closing eyes and it is persistent.

5. Presenting illness cntn … Complaints of tremors wile approaching the objects since three and half years. No h/o motor weakness. No symptoms suggestive of proximal or distal weakness. No history of sensory disturbance. Can appreciate hot and cold water sensation No history of Tingling, burning sensation or numbness of upper limb and lower limb. No h/o bowel or bladder disturbance.

6. Presenting illness cntn … No h/o of nasal regurgitation or dysphagia. H/o slurring of speech since three and half years which is insidious in onset and slowly progressive. No h/o deafness or vertigo No other cranial nerve symptoms No h/o loss of weight H/o decreased food intake No h/o abdominal pain or diarrhoea .

7. Presenting illness cntn … No h/o weight gain or cold intolerance. No h/o of vomiting or headache. No h/o ear discharge. No h/o stiffness of limbs or joints. No h/o chest pain/palpitation/ dyspnea /swelling of lower limbs or syncope. No h/o repeated respiratory tract infection. No H/o resting tremors or fasciculations . No h/o relapsing or remitting episodes of ataxia. No h/o polydipsia,polyphagia or polyurea .

8. PAST HISTORY : No history of similar complaints in the past. No h/o ear discharge. No h/o TIA . No h/o repeated respiratory tract infections. No h/o DM, HT, TB PERSONAL HISTORY: Patient consumes mixed diet, Bowel and bladder habits are regular, sleep is sound, no addictive habits, No high risk behaviour or exposure.

9. FAMILY HISTORY Died 8 years back at the age of 55 years Died at the age of 30 years

10. MENSTURAL HISTORY : Age of menarche :16 years Normal 3/30 days flow, not associated with clots or pain. DRUG HISTORY: No history of Antipsychotic , Anticonvulsants , Cardiac and Chemotherapeutic drugs intake .

11. SUMMARY Here is a 28 yrs female with insidious onset of ataxia which is bilaterally symmetrical not history suggestive of corticospinal , sensory or peripheral nerves involvement.No bowel and bladder involvement with strong family history of autosomal dominant inheritance. Most likely differentials can be Spinocerebellar Ataxia. Hypothyroid Subacute combined degeneration of the cord

12. GENERAL PHYSICAL EXAMINATION 28 years old female who is conscious and cooperative . Not pale/icteric . No cyanosis or clubbing or lymphadenopathy or pedal edema. PR : 80 bpm , regular in rhythm , normal in volume character, no radio-radial or radio-femoral delay , all peripheral pulses are felt. BP : 120/80 mm Hg Temp : Afebrile RR : 18 cpm

13. HEAD TO FOOT EXAMINATION cntn … No Telengiectasia. No lymph node enlargement. No skin lesions. No scoliosis , kyphosis or pescavus . No knuckle pigmentation. No facial puffiness or ;loss of lateral one third of eyebrow. No pitting edema.

14. HEAD TO FOOT EXAMINATION cntn … Markers of coronary artery disease. Signs of alcoholism. No other Neurocutaneous markers. No Gum hypertrophy.

15. CNS EXAMINATION HIGHER MENTAL FUNCTIONS : She is consious , oriented and a right handed person . She is attentive .MMSE 28/30 Language : Dysarthria Memory : immediate, recent and remote memory is intact. No constructional apraxia . Abstract thinking is normal Insight and judgement is normal

16. CRANIAL NERVE EXAMINATION : Olfactory nerve : normal Optic nerve : visual acuity, field of vision, colour vision normal: Fundus : normal Occulomotor nerve : Extra Occulomotor Movements normal No Nystagmus Slow saccades in horizontal direction, normal in vertical direction No gaze palsy Pupillary reactions are normal

17. Trigeminal nerve: Moto and Sensory divisions are normal Corneal and conjunctival reflexes are present Jaw jerk : normal Facial Nerve : Motor and Sensory divisions are normal Vestibulocochlear Nerve : Rinne test’s : AC > BC and Weber test’s : No lateralisation Glossopharyngeal and Vagus nerve: GAG reflex is present Uvula is central Spinal accessory and hypoglossal nerve : Normal

18. Motor system Nutrition Right Left ARM 29 28.5 FOREARM 24 23.5 THIGH 52 51 LEG 32 31 TONE UPPER LIMB N N LOWER LIMB N N POWER UPPER LIMB SHOULDER 5/5 5/5 ADDUCTION 5/5 5/5

19. Right Left ABDUCTION 5/5 5/5 FLEXION 5/5 5/5 EXTENSION 5/5 5/5 PECTORALIS MAJOR 5/5 5/5 LATTISMUS DORSI 5/5 5/5 RHOMBOIDEUS MAJOR 5/5 5/5 INFRASPINATUS 5/5 5/5 SERRATUS ANTERIOR 5/5 5/5 ELBOW FLEXION 5/5 5/5 ELBOW EXTENSION 5/5 5/5 WRIST FLEXION 5/5 5/5 WRIST EXTENSION 5/5 5/5 SMALL MUSCLES OF HAND 5/5 5/5

20. Right Left LOWER LIMB HIP 5/5 5/5 FLEXION 5/5 5/5 EXTENSION 5/5 5/5 ADDUCTION 5/5 5/5 ABDUCTION 5/5 5/5 KNEE FLEXION 5/5 5/5 KNEE EXTENSION 5/5 5/5 ANKLE 5/5 5/5 DORSIFLEXION 5/5 5/5 PLANTAR FLEXION 5/5 5/5 INVERSION 5/5 5/5 EVERSION 5/5 5/5

21. CO-ORDINATION Finger Nose Test : Dyssynergia , Dysmetria (R > L) Finger Finger Nose Test : positive Heel-Knee-Shin Test : Positive

22. REFLEXES SUPERFICIAL : Corneal : Present Conjunctival : Present Gag : Present Abdominal : Present Anal : Present Plantar : Bilateral Flexors

23. DEEP TENDON REFLEXES RIGHT LEFT BICEPS JERK + + TRICEPS JERK + + SUPINATOR JERK + + KNEE JERK ++ ++ ANKLE JERK + +

24. CEREBELLAR SYSTEM EXAMINATION No Nystagmus No titubation Mild dysarthria present Tremors present Finger Nose Test : Dyssynergia , Dysmetria, (R>L) Finger Finger Nose Test : positive Heel-Knee-shin test : Positive Holmes Rebound phenomenon : No

25. CEREBELLAR SYSTEM EXAMINATION CNTN… Dysdiadakokinesia : No Past pointing : no lateralisation of hands Pendular knee jerk : present Tandem walking : cant do turn around the chair : cant do No macrographia Tap dots under the circle.: normal No truncal ataxia Gait : wide based gait

26. SENSORY SYSTEM Fine touch : Normal Pain, Temperature : Normal Vibration : Normal Joint position : Normal Romberg's Sign : Not able to do Cortical sensations : Normal

27. GAIT : wide based gait Autonomic nervous system : normal OTHER SYSTEMS: CVS : S1S2 is heard no murmur. RS : B/L AE is present, no added sounds. P/A : Soft, not tender ,no organomegaly.

28. SUMMARY A 28 years old female patient with chronic history of bilaterally symmetrical persistent ataxia with a strong family history suggests that this is a case of HEREDITARY CEREBELLAR ATAXIA and with genetic penetrance of autosomal dominant pattern. I would like to diagnose this case as SPINO CEREBELLAR ATAXIA .

29. INVESTIGATIONS MRI Brain. Genetic studies.

30. MRI BRAIN

31. DNA report Methodology : The genomic DNA was extracted from Buffy coat cells and the mutation was characterised by PCR using Fluorescent Labelled Primers that is flanking the CAG repeat region in the SCA 1, SCA 2, SCA 3 genes . SCA 2 allele size was 203 kilobase (119 bp – 205bp) and the number of repeats is 68 (lower range) and 90 (upper range). Mrs.XY is most likely suffering from SCA 2 gene as the number of trinucleotide repeat of CAG trinucleotide is seen in Spinocerebellar ataxia

32. She is having CAG repeats of 62 to 19 in one of the allele which falls beyond the normal range of 60 to 30 for SCA 2 gene Mrs XY is most likely normal for SCA 1 and SCA 3 as the number of CAG falls within normal range for SCA 1 and SCA 3 but for SCA 2 is falling in the abnormal range around 62 and 19.

33. Diagnosis : SPINOCEREBELLAR ATAXIA TYPE 2