Cure ADSSL1
Cycle 3
ADSS(L)1 Myopathy is a rare genetic disorder that causes muscular weakness right from birth and onset of rapid progression as affected individuals enter their teen years. The impact of this disease is devastating, causing failure in muscle function over time, leading to loss in mobility in the arms and legs. It also has grave impact on lungs and heart function.
Last updated 04/30/2025
Clinical
Disease Class
Genetic diseases
Inherited metabolic disorder
Body Systems
Muscular / Skeletal
Respiratory
Organs
Esophagus
Heart
Lungs
Mouth / teeth
Muscles
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
ADSSL1 (ADSS1)
contributory_genes
None specified / unknown
Type of Inheritance
Autosomal recessive
Newborn Screening
No
Disease Mechanism(s)
Enzyme deficiency
Unknown
Age of Onset
Early childhood (age 1+-5)
Average Age at Diagnosis
Adolescence (12-17)
Adulthood (age 18-64)
Life Expectancy
Adulthood (age 18-64)
Affected Sex(es)
Female
Male
National Prevalence
11-50
Global Prevalence
101-1000
National Incidence
Less than 10
Global Incidence
Less than 10
Populations and/or ancestry with higher prevalence
Asian - The identified patients are from the following origins: Korean, Japanese, Chinese, and Indian.
Symptoms / Phenotypes
balance problems
breathing difficulties
cardiac abnormalities
feeding difficulties
foot dorsiflexor weakness / foot drop
functional motor deficit
gait abnormalities / gait disturbance
hand muscle weakness
lower limb muscle weakness
shoulder girdle muscle weakness
upper limb muscle weakness
Biomarkers
None
Existing Therapies
None
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Cell Lines, Institution
Applied StemCell, Inc
Coriell Institute
Cell Lines, Involvement
Own
Cell Lines, share
All our cell lines are freely available
Disease Model
C. elegans
Mouse
Zebrafish
Disease Model, Involvement
Funded
Own
Disease Model, share
Some of our disease models are freely available
Clinical Trial Role
Not involved
Biobank, Institution
None
Center of Excellence, Institution
None
Registry
Yes, we have collaborated on a registry
Data Collected, Registry
Electronic health records/electronic medical records
Genetic data
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
Not specified
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Genetic data
Imaging data
Patient-reported outcomes
Platform, Natural History Study
Other
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
No, we do not have any ICD codes
Diagnostic Guidelines
Yes, we have guidance available on our website
Science Advisory Board Policies
No policies
Research Network Policies
Has CRN but no policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
Asia