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 | |