Rare diseases · Sign or symptom
Distal lower limb muscle weakness
HP:0009053
What it means
Reduced strength of the distal musculature of the legs.
This finding can be due to peripheral neuropathy.
Rare diseases that can present with this50
Very common80–99%
16- Adrenomyeloneuropathy
- Anoctamin-5-related limb-girdle muscular dystrophy R12
- Autosomal dominant Charcot-Marie-Tooth disease type 2W
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- Autosomal dominant spastic paraplegia type 3
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Charcot-Marie-Tooth disease type 1E
- Charcot-Marie-Tooth disease type 2B1
- Charcot-Marie-Tooth disease type 4B2
- Charcot-Marie-Tooth disease type 4D
- Charcot-Marie-Tooth disease type 4G
- Desminopathy
- Distal anoctaminopathy
- Lower motor neuron syndrome with late-adult onset
- Spinocerebellar ataxia type 43
Common30–79%
19- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- Acute inflammatory demyelinating polyradiculoneuropathy
- Adenylosuccinate synthetase-like 1-related distal myopathy
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2
- Autosomal dominant mitochondrial myopathy with exercise intolerance
- Autosomal dominant spastic paraplegia type 38
- Autosomal dominant spastic paraplegia type 73
- Autosomal recessive spastic paraplegia type 74
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- Charcot-Marie-Tooth disease type 1F
- Distal hereditary motor neuropathy type 5
- FLNC-related handgrip and calf weakness-distal myopathy
- Japanese encephalitis
- Miyoshi myopathy
- MT-ATP6-related mitochondrial spastic paraplegia
- Oculopharyngodistal myopathy
- Richieri Costa-da Silva syndrome
- Spinocerebellar ataxia with axonal neuropathy type 1
- X-linked Charcot-Marie-Tooth disease type 2
Sometimes5–29%
15- Abetalipoproteinemia
- Acute transverse myelitis
- Ataxia-oculomotor apraxia type 4
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- Congenital myasthenic syndrome
- GMPPB-related limb-girdle muscular dystrophy R19
- Overlap myositis
- Plectin-related limb-girdle muscular dystrophy R17
and 7 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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Distal muscle weakness in lower limbs · Muscle weakness, 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.