Rare diseases · Sign or symptom
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
HP:0003701
What it means
A lack of strength of the proximal muscles.
Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ.
Rare diseases that can present with this59
Very common80–99%
15- Congenital myasthenic syndrome
- Dermatomyositis
- Distal myotilinopathy
- Duchenne muscular dystrophy
- FKRP-related limb-girdle muscular dystrophy R9
- Giant axonal neuropathy
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Inclusion body myositis
- Polymyositis
- Presynaptic congenital myasthenic syndrome
- Proximal myotonic myopathy
- Proximal spinal muscular atrophy
- Pure mitochondrial myopathy
- Synaptic congenital myasthenic syndrome
- Zebra body myopathy
Common30–79%
33- Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
- Autosomal dominant Charcot-Marie-Tooth disease type 2E
- Autosomal dominant Charcot-Marie-Tooth disease type 2K
- Autosomal dominant spastic paraplegia type 36
- Autosomal dominant spastic paraplegia type 41
- Autosomal recessive ataxia due to ubiquinone deficiency
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Calpain-3-related limb-girdle muscular dystrophy R1
- Charcot-Marie-Tooth disease type 1A
- Charcot-Marie-Tooth disease type 2B1
- Charcot-Marie-Tooth disease type 4G
- Congenital multicore myopathy with external ophthalmoplegia
- Congenital muscular dystrophy with cerebellar involvement
- Congenital myasthenic syndrome with glycosylation defect
- Congenital myopathy with myasthenic-like onset
- Cushing syndrome due to bilateral macronodular adrenocortical disease
- Frontotemporal dementia with motor neuron disease
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- Infantile-onset X-linked spinal muscular atrophy
- Isolated succinate-CoQ reductase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- Multiple acyl-CoA dehydrogenase deficiency
- NARP syndrome
- Oncogenic osteomalacia
- Overlap myositis
- POMT1-related limb-girdle muscular dystrophy R11
- Proximal myopathy with extrapyramidal signs
- Sandhoff disease, juvenile form
- Scleromyxedema
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
- Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
- TRAPPC11-related limb-girdle muscular dystrophy R18
Sometimes5–29%
10- Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- Autosomal recessive progressive external ophthalmoplegia
- Charcot-Marie-Tooth disease type 4D
- Hereditary myopathy with early respiratory failure
- Juvenile amyotrophic lateral sclerosis
- MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- Myopathic Ehlers-Danlos syndrome
and 2 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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Muscle weakness, proximal · Proximal limb muscle weakness · Proximal limb weakness · Proximal neurogenic muscle weakness
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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.