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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 May 2024

Clinical
Disease Class
Rare Skeletal Muscular Disorder
Rare genetic diseases
Body Systems
Cardiovascular / Circulatory
Digestive
Metabolic
Muscular / Skeletal
Respiratory
Organs
Bones
Connective tissue / joints
Eyes
Heart
Muscles
Genes
ACTA1
ADSSL1
CFL2
KBTBD13
KLHL40
KLHL41
LMOD3
MYPN
NEB
RYR3
TNNT1
TNNT3
TPM2
TPM3
Type of Inheritance
Autosomal dominant
Autosomal recessive
De novo
Disease Mechanism(s)
Mitochondrial dysfunction
Pathogenic mutation
Age of Onset
Early childhood (age 1+-5)
Infancy (age 0-1)
Prebirth
Incidence
Unknown
Prevalence
101-1000
Symptoms / Phenotypes
hyporeflexia
hypotonia
joint contracture
muscle weakness
myopathy
respiratory insufficiency / respiratory failure
scoliosis / spinal curvature
Biomarkers
Diagnostic
· Mutation in Specific Genes
Existing Therapies
Alternative treatments (eg. nutritional supplements)
· Mechanical (invasive and non-invasive) Respiratory Ventilation, all kind of nutritional supplements by case, Physical Therapy (stretching); feeding tube
Organizational & Research
Cell Lines
iPSCs
Myoblasts
Myotubes
Primary human skeletal muscle cells
Cell Lines, location
Coriell Institute
Cell Lines, share
Yes
Disease Model
Mouse
Organoids
Zebrafish
Disease Model, location
Jackson Laboratories (JAX)
University of Washington
Disease Model, share
Yes
Clinical Trial Role
Not involved
Biobank
Boston Children's Hospital
Center of Excellence
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
Yes
Clinical/Treatment Guidelines
Yes
Organizational Roles
No full-time staff
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