Rare diseases · Sign or symptom
Generalized muscle weakness
HP:0003324
What it means
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
Rare diseases that can present with this45
Very common80–99%
11- Amyotrophic lateral sclerosis
- Calpain-3-related limb-girdle muscular dystrophy R1
- Distal Xq28 microduplication syndrome
- DNAJB6-related limb-girdle muscular dystrophy D1
- Intermediate nemaline myopathy
- Macrophagic myofasciitis
- Non-insulinoma pancreatogenous hypoglycemia syndrome
- Severe X-linked mitochondrial encephalomyopathy
- Synaptic congenital myasthenic syndrome
- Thrombotic thrombocytopenic purpura
- Ullrich congenital muscular dystrophy
Common30–79%
19- Acyl-CoA dehydrogenase 9 deficiency
- Aminoacylase 1 deficiency
- Congenital muscular dystrophy without intellectual disability
- Congenital myasthenic syndrome
- Familial acute necrotizing encephalopathy
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- Huntington disease
- Insulinoma
- Isolated succinate-CoQ reductase deficiency
- Mercury poisoning
- Moderate multiminicore disease with hand involvement
- Multiple myeloma
- Myopathic Ehlers-Danlos syndrome
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- Pituitary dermoid and epidermoid cysts
- Postencephalitic parkinsonism
- Presynaptic congenital myasthenic syndrome
- TK2-related mitochondrial DNA maintenance defect, myopathic form
- VIPoma
Sometimes5–29%
13- Allan-Herndon-Dudley syndrome
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- Congenital fiber-type disproportion myopathy
- Glycogen storage disease due to acid maltase deficiency
- IgG4-related dacryoadenitis and sialadenitis
- Infantile-onset X-linked spinal muscular atrophy
- Kufor-Rakeb syndrome
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
and 5 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: Generalised muscle weakness · Generalised weakness · Generalized weakness · Muscle weakness, diffuse · Muscle weakness, generalised · Muscle weakness, generalized
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.