Rare diseases · Sign or symptom
Proximal amyotrophy
Wasting of muscles near the body
HP:0007126
What it means
Amyotrophy (muscular atrophy) affecting the proximal musculature.
Proximal amyotrophy usually has a roughly symmetric distribution.
Rare diseases that can present with this13
Common30–79%
10- Amish nemaline myopathy
- Autosomal dominant adult-onset proximal spinal muscular atrophy
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
- Congenital muscular dystrophy without intellectual disability
- Cushing disease
- Cushing syndrome due to bilateral macronodular adrenocortical disease
- Cushing syndrome due to ectopic ACTH secretion
- Miyoshi myopathy
- POMT2-related limb-girdle muscular dystrophy R14
- Pure mitochondrial myopathy
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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Muscle atrophy, proximal · Proximal muscle atrophy · Proximal muscle wasting · Symmetric proximal muscular atrophy · Symmetrical, proximal limb muscle atrophy
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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.