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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 04/30/2026

Clinical

Disease Class

Genetic diseases

Muscular and neuromuscular diseases

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

TNNT3

TPM2

TPM3

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal dominant

Autosomal recessive

De novo

Newborn Screening

Disease Mechanism(s)

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

Other

· Respiratory support (BiPap machines), orthopedic devices, mobility devices (wheelchair, scooter, etc.)

Therapies in Development

Devices/medical equipment

Gene therapy

· Split Inteins, DNA nanobots, Gene replacement, Knockdown and Replace

RNA interference (RNAi) therapy (siRNA, etc.)

· Knockdown of a dominant mutant allele

Repurposed drug

· HTP of FDA/approved small molecule libraries

Small molecule therapy (novel small molecule drugs)

· Structure-guided small-molecule chaperones (AI assisted)

Therapeutic Development Stages

In research/exploratory phase

Therapeutic Development Role

Funding

Results dissemination (including publications)

Sample provision

Organizational & Research

Cell Lines

None

Cell Lines, Institution

None

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

Organizational Challenges

Not enough funding that we can contribute, and shrink of federal funding and other private foundations

Clinical Trial Role

Not involved

Clinical Trial Types

Observational

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

Yes, we have collaborated on a natural history study

Data Collected, Natural History Study

Clinical endpoints (outcomes)

Electronic health records/electronic medical records

Genetic data

Patient-reported outcomes

Prospective data

Retrospective data

Platform, Natural History Study

REDCap

FDA Patient Listening Session

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

Yes, we have an ICD-10 code specific to our exact disease

Diagnostic Guidelines

Science Advisory Board Policies

No policies

Research Network Policies

Has CRN but no policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

Yes we have a Research Roadmap, and will share policies

None

Europe

North America

Oceania

South America