CHARCOT MARIE TOOTH - TYPE 2

12yr child studying 8th standard born to Grade 2 consanguineous parentage by Lscs who cried immediately after birth & didn't have prolonged hospital stay, Attained milestones appropriately

Mother noticed Difficulty in wearing in chappals & walking since 5yrs of her age which is insidious in onset & gradually progressive in nature,So child stopped using chappals & She noticed that her child is not able to run like other peers & would fall due to tripping occasionally injuring her toe's.

But since past 6mnths mother noticed Difficulty in getting up from squatting position, she places her hand on floor & with support she stands up 

No h/o paresthesia, Numbness, wash basin attacks.
No h/o similar complaints in Upper limbs
No h/o similar complaints in family members 
O/e
Pt c/c/c
Cranium & spine - Normal
HMF- N
CN- N
Motor- mild Neck flexor weakness
U/L - Shoulder - 5/5
Elbow- 4+/5 
Wrist-4+/5
Finger Extensors - 4-/5
Hand grip reasonably good
No hand muscle wasting

Hip- 4/5
Knee- 4/5
Ankle- DF - 3/5, PF- 4/5

DTR- ABSENT in all Limbs with b/L flexor plantar

Sensory - pain , temp in all Limbs
Vibration - 10 sec in LL
12 sec in U/L
proprioception - Checked multiple times mostly Normal

Rombergs - Negative

Ankle movements 
https://drive.google.com/file/d/1PYcVznD5T5aKBnTJPoh6ZiarAYv7kI3k/view?usp=drivesdk

Gait video
https://drive.google.com/file/d/1Par9eK-5DmI2oTpQ1uNhOdVf3nKyn_C7/view?usp=drivesdk

D/D's
1)HSMN ( CMT )
2)Distal myopathies
3)Distal SMA

Blood routines & ammonia - Normal
Sr.Lactate - 2.6 ( 0.5 to 1.6 )

NCS
After thorough History & examination, Decreased Amplitude in NCS ,
Possibility of CMT is considered

Genetic Analysis couldn't be done due to financial constraints 

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