Rare diseases · Sign or symptom
Distal muscle weakness
Weakness of outermost muscles
HP:0002460
What it means
Reduced strength of the musculature of the distal extremities.
Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric.
Rare diseases that can present with this63
Very common80–99%
12- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- Adult-onset distal myopathy due to VCP mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- Autosomal recessive spastic paraplegia type 43
- Autosomal spastic paraplegia type 18
- Charcot-Marie-Tooth disease type 1F
- Charcot-Marie-Tooth disease type 4A
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
- Steinert myotonic dystrophy
- X-linked Charcot-Marie-Tooth disease type 4
- Zebra body myopathy
Common30–79%
34- Amyotrophic lateral sclerosis type 4
- Autosomal dominant Charcot-Marie-Tooth disease type 2E
- Autosomal dominant Charcot-Marie-Tooth disease type 2K
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- Autosomal dominant spastic paraplegia type 36
- Bethlem muscular dystrophy
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
- Charcot-Marie-Tooth disease type 1A
- Charcot-Marie-Tooth disease type 2B1
- Charcot-Marie-Tooth disease type 4C
- Charcot-Marie-Tooth disease type 4D
- Choreoacanthocytosis
- Distal myotilinopathy
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- Frontotemporal dementia with motor neuron disease
- Giant axonal neuropathy
- Hereditary coproporphyria
- Hereditary sensory and autonomic neuropathy type 1
- Infantile multisystem neurologic-endocrine-pancreatic disease
- Juvenile amyotrophic lateral sclerosis
- Laing distal myopathy
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- Machado-Joseph disease type 3
- Madras motor neuron disease
- Mitochondrial neurogastrointestinal encephalomyopathy
- PMP22-RAI1 contiguous gene duplication syndrome
- Proximal spinal muscular atrophy
- Pure mitochondrial myopathy
- Synaptic congenital myasthenic syndrome
- Tangier disease
- Tay-Sachs disease
- TK2-related mitochondrial DNA maintenance defect, myopathic form
- Vocal cord and pharyngeal distal 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: Distal limb muscle weakness · Distal limb muscle weakness due to peripheral neuropathy · Distal limb weakness · Distal muscular weakness · Distal paresis · Muscle weakness, distal · Muscle weakness, distal limbs, due to neuronopathy · Weakness of distal muscles
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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.