Rare diseases · Sign or symptom
Respiratory insufficiency due to muscle weakness
Decreased lung function due to weak breathing muscles
HP:0002747
Rare diseases that can present with this42
Very common80–99%
1Common30–79%
20- Adult intestinal botulism
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- Congenital fiber-type disproportion myopathy
- Dermatomyositis
- Desminopathy
- Foodborne botulism
- Glycogen storage disease due to acid maltase deficiency
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- Hereditary myopathy with early respiratory failure
- Infant botulism
- Mitochondrial DNA-related progressive external ophthalmoplegia
- Multiminicore myopathy
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- Oculopharyngodistal myopathy
- Proximal spinal muscular atrophy
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- TK2-related mitochondrial DNA maintenance defect, myopathic form
- Toxin-mediated infectious botulism
- Vocal cord and pharyngeal distal myopathy
- Wound botulism
Sometimes5–29%
14- Adult-onset nemaline myopathy
- Alpha-B crystallin-related late-onset myopathy
- Amish nemaline myopathy
- Autosomal dominant centronuclear myopathy
- Childhood-onset nemaline myopathy
- Distal renal tubular acidosis
- Dyggve-Melchior-Clausen disease
- Hypokalemic periodic paralysis
and 6 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 2 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Decreased respiratory function due to muscle weakness · Respiratory distress due to muscle weakness · Respiratory failure due to muscle weakness · Respiratory muscle weakness
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.