nemaline myopathy 5
Findings
No curated finding names nemaline myopathy 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.
Definition from the Mondo Disease Ontology (MONDO:0011539), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased hip abductionHPOHP:0003184
- 6 of 6 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 6 of 6 reported patients
- Hip contractureHPOHP:0003273
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- MyopathyHPOHP:0003198
- 6 of 6 reported patients
- Nemaline bodiesHPOHP:0003798
- 4 of 4 reported patients
- Progressive muscle weaknessHPOHP:0003323
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 6
- Neonatal hypotoniaHPOHP:0001319
- Frequent (30% to 79% of cases)
- Pectus carinatumHPOHP:0000768
- Frequent (30% to 79% of cases)
- Shoulder flexion contractureHPOHP:0003044
- Frequent (30% to 79% of cases)
- Respiratory insufficiency due to muscle weaknessHPOHP:0002747
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- 0 of 6 reported patients
- Respiratory insufficiencyHPOHP:0002093
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TNNT1HGNC:11948
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: nemaline myopathy 5
- Also called
- Amish nemaline myopathyANMNEM5nemaline myopathy caused by mutation in TNNT1nemaline myopathy type 5TNNT1 nemaline myopathy