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Table 3 Most recent neurological examination findings and current treatment

From: Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience

Patient codification

A

B

C

D

E

F

G

H

I

Neurological examination: motor, consciousness level, visual alterations, epilepsy, functional level

Spastic tetraparesis, Somnolence, Complete lack of visual response, bedridden

Spastic tetraparesis, Somnolence, Lack of visual response to light stimuli, pupil deformity

Increased muscle tone in lower limbs, Somnolence, Blindness, Dyspraxia, Wheelchair bound

General hypotonia, Complete lack of visual response, Unstable in sitting position

Trunk ataxia, Axial hypotonia, Limb hypertonia, Lack of visual response

Tone and muscle strength preserved, Alert, Normal eye contact, Inability to walk

Spastic quadriparesis, Nistagmus, Focal Myoclonus, Beddriden

Lack of visual response, Right clonus, Able to stand in upright position using both upper limbs

Spastic quadriparesis, Myoclonic seizures

Other clinical findings

   

Dysphagia (nasogastric tube)

Dysphagia

    

Treatment

Valproic acid

Carbamazepine

Valproic acid

Carbamazepine

Topiramate

Valproic acid

Clonazepam

Valproic acid

Clonazepam

Levetiracetam

Valproic acid

Clonazepam

Haloperidol

Melatonin

Valproic acid

Clobazam

Valproic acid

Carbamazepine

Carbamazepine, Clonazepam

L-carnitine

Thiamine

Biotin

CoQ10

Carbamazepine

Clonazepam

Primidone

Melatonin