Rare diseases · Sign or symptom
Proximal lower limb amyotrophy
Wasting of thigh muscle
HP:0008956
What it means
Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.
Rare diseases that can present with this8
Common30–79%
7- Autosomal dominant Emery-Dreifuss muscular dystrophy
- Autosomal dominant spastic paraplegia type 31
- Autosomal recessive Emery-Dreifuss muscular dystrophy
- Charcot-Marie-Tooth disease type 2B1
- Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
- Emery-Dreifuss muscular dystrophy
- X-linked Emery-Dreifuss muscular dystrophy
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: Amyotrophy involving the thigh · Amyotrophy of the thigh musculature · Proximal lower limb muscle atrophy · Thigh 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.