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Table 4 Clinical Severity assessment

From: Consensus clinical management guidelines for Niemann-Pick disease type C

I. Functional disability scale (Modified from Pineda et al. [24])
Ambulation Score
 Normal 0
 Clumsiness 1
 Autonomous ataxic gait 2
 Outdoor assisted ambulation 3
 Indoor assisted ambulation 4
 Wheelchair-bound 5
Manipulation Score
 Normal 0
 Tremor 1
 Slight dysmetria/dystonia (allows autonomous manipulation) 2
 Mild dysmetria/dystonia (requires help for several tasks but is able to feed themselves) 3
 Severe dysmetria/dystonia (requires assistance in all activities) 4
Language Score
 Normal 0
 Delayed acquisition 1
 Mild dysarthria (understandable) 2
 Severe dysarthria (only comprehensible to some family members) 3
 Non-verbal communication 4
 Absence of communication 5
Swallowing Score
 Normal 0
 Occasional dysphagia 1
 Daily dysphagia 2
 Nasogastric tube or gastric button feeding 3
Eye movements Score
 Normal 0
 Slow ocular pursuit 1
 Vertical ophthalmoplegia 2
 Complete ophthalmoplegia 3
Seizure Score
 No 0
 Yes, controlled by antiepileptic drugs 2
 Yes, uncontrolled on two or more antiepileptic drugs of maximally tolerable dose 4
II. Neurocognitive Assessment
Development (< 12 years old):
 O Normal
 O Mild learning delay
 O Moderate learning delay
 O Severe delay/plateau
 O Regression
Memory (> 12 years old):
 O Normal
 O Mild impairment
 O Moderate
 O Difficult following commands
 O Unable to follow commands
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