25yr Male with progressive Ataxia, dysarthria

Chief complaints:-

A 25yr old educated male who finished Mcom post graduation 6 month's ago came with  

C/o dizziness and difficulty in walking since 5yrs.

C/o difficulty in speaking since 4yrs

HOPI:-

Pt was a/a 5yrs back when he developed fever for 3 day's which subsided after getting treatment from a private hospital. Later he developed dizziness in the form of revolving sensation inside his head and it's episodic, not associated with any postural variation or tinnitus / hearing loss or aggravating or relieving factor's & it's Associated with swaying while walking. 

H/o Difficulty in walking with imbalance in the form of swaying to either sides however he's able to walk independently but Since 1yr the difficulty increased he would walk with feet wide apart & was not able to stand with feet close together & required support to walk around and go to bathroom. it's not associated with any falls. since 1yr he also noticed difficulty in getting up from squatting position & now with the help of both hand's he can stand from sitting position.  However there's no slippage of footwear. he prefers to wash his face in sitting position since closing his eyes increases his swaying. He is able to button, unbutton shirts, open jar lid, break chapathi , reach over head object's without difficulty.

H/o Slurring of speech since 4yrs , insidious in onset & gradually progressive, initially parents and relatives were able to understand but since 1yr they are asking him to repeat the sentence. However he's able to read, understand and write. There's is no h/o difficulty in chewing, making food bolus,deglutition or any Aspiration.

No h/o memory disturbances / seizures

No h/o involuntary movements in limbs

No h/o bowel & bladder disturbances.

PAST HISTORY:-

No significant past history

No h/o Animal bite/ vaccination

No h/o blood transfusion

Born by LSCS , milestone appropriate to age 

FAMILY HISTORY:-

No h/o similar complaints in family members

PERSONAL HISTORY:-

Diet- mixed

Sleep- Adequate

B×B - Normal

No addictions /high risk behaviour

SUMMARY:- A 25yr old Mcom graduate without any pre existing comorbidities presented with chronic progressive Ataxia with dysarthria without any involvement of HMF, CN, B&B, ANS

GENERAL PHYSICAL EXAMINATION:-

Pt is conscious/ alert/ cooperative

Facies- Normal

Built- moderate

Nutrition- BMI- 25kg/m2

Decibitus- Legs extended at Hip, knee & plantar flexed

PICCLE - Absent

PR- 86bpm, regular, normal volume, no radio radial or radio femoral delay

BP- 130/80mmhg in supine

RR- 16cpm, Thoraco abdominal type

Temp- 98.6f

No engorged neck veins/ enlarged neck glands/ no oral ulcers / no neuro cutaneous markers

Cranium & spine normal, No vertebral tenderness noted.

HIGHER MENTAL FUNCTIONS:-

Pt is rt handed 

GCS- 15/15

Conscious/ well Oriented to time place & person.

Memory- Immediate, recent, remote intact.

Speech- Slurred however Language function ( syntax, naming, comprehension)

is normal.

CRANIAL NERVES:-

Normal

MOTOR:-

Muscle bulk preseved in all limbs.

No fasciculations/ wasting seen.

Attitude-

Pt lying supine position with attitude of both lower limbs are externally rotated & extended at Hip , knee & flexed at ankle

Both arms placed at sides 

Nutrition-

                           Rt. Lt.

Arm. 24cm. 24cm

Fore arm. 19cm. 19cm

Thigh. 43cm. 42cm

Calf. 32cm. 32cm

TONE-

According to modified ashworth scale

Normal in upper limbs

Hypotonia in Lower limbs 

POWER-

UPPER LIMB-.                    

                             Rt. Lt

Shoulder

 Abduction. 5/5. 5/5

 Adduction. 5/5. 5/5

 Flexion. 5/5. 5/5

 Extension. 5/5. 5/5

Elbow

 Flexion. 4/5. 4/5

 Extension. 4/5. 4/5

Wrist

 Dorsiflexion. 4/5. 4/5

 Palmar flexion. 4/5. 4/5

Small muscles of both hands - 5/5

LOWER LIMB-                  

                             Rt. Lt

HIP

 Abduction. 4/5. 4/5

 Adduction. 4/5. 4/5

 Flexion. 4/5. 4/5

 Extension. 2 to 3 /5. 2 to 3/5

KNEE

 Flexion. 3/5 ,3/5

 Extension. 4+/5. 4+/5

ANKLE

 Dorsiflexion. 4+/5. 4+/5

 Plantar flexion. 4+/5. 4+/5

Small muscles of foot- 4+/5. 4+/5

REFLEXES:-

                  Rt. Lt

B. -nt

T. -nt

S. -nt

K. 2+. 2+

A. 2+. 2+

PLANTAR B/L extensor

Abdominal reflex:- present 

SENSORY:-

spino thalamic

Crude touch,Pain,Temperature are normal in UL & LL

Post.column:-

Fine touch, Vibration,Proprioception- Decreased in lowerlimbs

Vibration:- 9sec at EHL, 7sec at ankle, 6 sec at ASIS

U/L - 15sec

CEREBELLUM:-

FNF- impaired on both sides 

HKT- impaired on both sides 

Nystagmus -nt

Dysdiadochokinesia -nt

GAIT- Slow short stride Wide based cautious gait with impaired tandem walking with postural instability with rombergism ( Cannot stand with feet together even with eyes open )

MENINGEAL SIGNS:-

Absent

ANS:-

Resting tachycardia, abnormal sweating absent

Functional Diagnosis:- An young male with Chronic progressive Ataxia with dysarthria with sensory predominantly Large fibre & CST & Cerebellar involvement without HMF,CN,B&B Involvement.

Anatomical Diagnosis:-

Ataxia & dysarthria ( scanning speech)- Cerebellar #

B/L Extensor plantars - Corticospinal tract #

Impaired proprioception & vibration:- Large fibre involvement.

Pathological diagnosis:-

Chronic & slowly progressive nature- probably degenerative, genetic.

Less likely Demyelination.

Etiological diagnosis:-

Spino cerebellar Ataxia

GM2 Gangliosidosis

Friedrich's Ataxia

Here's the Link to video of his gait

https://drive.google.com/file/d/16IEiP1Oy0nH6wbqdkLP7WrkwLQzzJR1i/view?usp=drivesdk