Rare diseases · Sign or symptom
Distal lower limb amyotrophy
HP:0008944
What it means
Muscular atrophy of distal leg muscles.
Distal lower limb muscle atrophy is commonly due to peripheral neuropathy.
Rare diseases that can present with this30
Very common80–99%
9- Autosomal dominant Charcot-Marie-Tooth disease type 2F
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- Autosomal dominant spastic paraplegia type 10
- Autosomal recessive spastic paraplegia type 57
- Autosomal recessive spastic paraplegia type 75
- Machado-Joseph disease type 3
- Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
- X-linked Charcot-Marie-Tooth disease type 1
- X-linked Charcot-Marie-Tooth disease type 6
Common30–79%
13- Adenylosuccinate synthetase-like 1-related distal myopathy
- Autosomal dominant spastic paraplegia type 3
- Autosomal dominant spastic paraplegia type 73
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- Charcot-Marie-Tooth disease type 1E
- Charcot-Marie-Tooth disease type 1F
- Miyoshi myopathy
- Oculopharyngodistal myopathy
- Spastic paraplegia-optic atrophy-neuropathy syndrome
- X-linked Charcot-Marie-Tooth disease type 2
- X-linked Charcot-Marie-Tooth disease type 3
- X-linked progressive cerebellar ataxia
Sometimes5–29%
7The 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: Lower leg amyotrophy · Lower limb atrophy · Lower limb degeneration · Lower limb muscle hypotrophy · Muscle atrophy, lower limb, distal
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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.