Table 3 Overview of rare diseases and first and composite disease-specific disease severity scales (year of publication)
Disease | First disease-specific DSS | Composite disease-specific DSS |
|---|---|---|
[total number of indicators] | [total number of indicators, number of duplicates excluded] | |
Acromegaly | Clinical Activity Score of Acromegaly (1992) [17] | Clinical Activity Score of Acromegaly (1992) |
Acroscore (2015) | ||
ACRODAT® (2017) [3, 26] | ||
Amyotrophic lateral sclerosis | Appel ALS Rating Scale (1987) [20] | Appel ALS Rating Scale (1987) |
Amyotrophic Lateral Sclerosis Severity Score (1989) | ||
Modified Norris Scale (1996) | ||
Amyotrophic Lateral Sclerosis Functional Rating Scale (1999) | ||
Amyotrophic Lateral Sclerosis Utility Index (2005) | ||
Japan ALS Severity Classification (2012) [71, 7] | ||
Charcot Marie Tooth disease | Charcot-Marie-Tooth Neuropathy Score (2007) [9] | Charcot-Marie-Tooth Neuropathy Score (2007) |
CMT Neuropathy Score (2011) | ||
CMT Examination Score (2011) | ||
CMT Pediatric Scale (2012) | ||
Mobility-Disability Severity Index (2014) [16, 26] | ||
Cystic fibrosis | The Shwachman-Kulczycki Score (1958) [20] | The Shwachman-Kulczycki Score (1958) |
Brasfield Score (1979) | ||
Cystic Fibrosis Clinical Score (1999) | ||
Matouk Clinical Score (2004) | ||
Chrispin–Norman Score (2005) [61, 10] | ||
Encephalitis | The Status Epilepticus Severity Score (2008) [4] | The Status Epilepticus Severity Score (2008) |
END IT Score (2016) | ||
The Epidemiology-Based Mortality Score in Status Epilepticus (2015) | ||
The Clinical Assessment Scale in Autoimmune Encephalitis (2019) [43, 2] | ||
Fabry disease | The Mainz Severity Score Index (2003) [25] | The Mainz Severity Score Index (2003) |
FD Severity Scoring System (2009) [37, 0] | ||
Friedreich ataxia | The International Cooperative Ataxia Rating Scale (1997) [24] | The International Cooperative Ataxia Rating Scale (1997) |
The Scale for the Assessment and Rating of Ataxia (2004) | ||
Friedreich Ataxia Rating Scale (2010) [50, 6] | ||
Gaucher disease type I | Gaucher Disease Severity Score Index – Type I (2008) [15] | Gaucher Disease Severity Score Index – Type I (2008) |
The Disease Severity Scoring System (2015) [1, 25] | ||
Huntington’s disease | The Unified Huntington’s Disease Rating Scale Motor Score (2013) [7] | The Unified Huntington’s Disease Rating Scale Motor Score (2013) |
Problem Behaviors Assessment for Huntington Disease (2015) [18, 0] | ||
Juvenile rheumatoid arthritis | Clinical Disease Activity Index for RA (2005) [4] | Clinical Disease Activity Index for RA (2005) |
Juvenile Arthritis Disease Activity Score (2009) [8, 0] | ||
Sjogren’s syndrome | EULAR Sjögren’s Syndrome Disease Activity Index (2010) [6] | EULAR Sjögren’s Syndrome Disease Activity Index (2010) [6] |
The Sjögren’s International Collaborative Clinical Alliance Ocular Staining Score (2015) [11, 0] | ||
Tourette syndrome | Yale Global Tic Severity Scale (1977) [15] | Yale Global Tic Severity Scale (1977) [15] |
The Shapiro Tourette Syndrome Severity Scale Score (2004) | ||
Premonitory Urge for Tic Disorders Scale (2012) [28, 0] |