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Nemaline Myopathy (NM) is a group of congenital, hereditary neuromuscular disorders that cause muscle weakness, generally nonprogressive, of varying severity where severe forms show up to 66% mortality rates before the age of two. It is considered one of the most severe muscle conditions of childhood.
Last updated 04/30/2025
Clinical
Disease Class
Genetic diseases
Skeletal Muscular Disorder
Body Systems
Cardiovascular / Circulatory
Digestive
Metabolic
Muscular / Skeletal
Respiratory
Organs
Bones
Connective tissue / joints
Eyes
Heart
Muscles
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
ACTA1
CFL2
KBTBD13
KLHL40
KLHL41
LMOD3
MYPN
NEB
TNNT1
TPM2
TPM3
contributory_genes
None specified / unknown
Type of Inheritance
Autosomal dominant
Autosomal recessive
De novo
Newborn Screening
No
Disease Mechanism(s)
Mitochondrial disorder
Pathogenic mutation
Age of Onset
Early childhood (age 1+-5)
Infancy (age 0-1)
Prebirth
Average Age at Diagnosis
Early childhood (age 1+-5)
Infancy (age 0-1)
Life Expectancy
Adulthood (age 18-64)
Affected Sex(es)
Female
Male
National Prevalence
1001-10000
Global Prevalence
10000+
National Incidence
Unknown
Global Incidence
Unknown
Symptoms / Phenotypes
hyporeflexia
hypotonia
joint contracture
muscle weakness
myopathy
respiratory insufficiency / respiratory failure
Biomarkers
Diagnostic
· Mutation in Specific Genes
Existing Therapies
None
Organizational & Research
Cell Lines
iPSCs
Myoblasts
Myotubes
Primary human skeletal muscle cells
Cell Lines, Institution
Coriell Institute
Cell Lines, share
Yes
Disease Model
Mouse
Organoids
Zebrafish
Disease Model, Involvement
Consulted
Funded
Disease Model, share
Some of our disease models are freely available
Clinical Trial Role
Not involved
Biobank, Institution
Boston Children's Hospital
Biobank, Involvement
Consulted
Funded
Center of Excellence, Institution
None
Registry
Yes, we have collaborated on a registry
Data Collected, Registry
Electronic health records/electronic medical records
Genetic data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
Ordinal Data
Natural History Study
No, we do not have a natural history study, but we plan to create or collaborate on one
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Diagnostic Guidelines
No
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
Europe