Rare diseases · Sign or symptom
Muscle weakness
Muscular weakness
HP:0001324
What it means
Reduced strength of muscles.
It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced.
Rare diseases that can present with this248
Very common80–99%
68- 3-methylglutaconic aciduria type 9
- Acute adrenal insufficiency
- Addison disease
- Adrenocortical carcinoma with pure aldosterone hypersecretion
- Adult intestinal botulism
- Adult polyglucosan body disease
- Alpha-N-acetylgalactosaminidase deficiency type 1
- Antisynthetase syndrome
- Arachnoiditis
- Ataxia with vitamin E deficiency
- Athyreosis
- Bethlem muscular dystrophy
- Carnitine-acylcarnitine translocase deficiency
- Carnitine palmitoyltransferase II deficiency
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- Charcot-Marie-Tooth disease type 1B
- Cold agglutinin disease
- Cryoglobulinemic vasculitis
- Cystinosis
- Drug-induced autoimmune hemolytic anemia
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Episodic ataxia type 7
- Episodic ataxia with slurred speech
- Facial onset sensory and motor neuronopathy
- Familial or sporadic hemiplegic migraine
- Foodborne botulism
- Genetic recurrent myoglobinuria
- Glycogen storage disease due to acid maltase deficiency
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- Hereditary sensory and autonomic neuropathy type 1
- Hypocalcemic vitamin D-dependent rickets
- Iatrogenic botulism
- Inhalational botulism
- Isolated complex I deficiency
- Juvenile amyotrophic lateral sclerosis
- Juvenile dermatomyositis
- Juvenile primary lateral sclerosis
- Laminin subunit alpha 2-related congenital muscular dystrophy
- Late-onset isolated ACTH deficiency
- Lethal ataxia with deafness and optic atrophy
- MELAS
- Mitochondrial DNA-related cardiomyopathy and hearing loss
- Mitochondrial membrane protein-associated neurodegeneration
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- Mixed-type autoimmune hemolytic anemia
- Monomelic amyotrophy
- Muscular pseudohypertrophy-hypothyroidism syndrome
- Musculocontractural Ehlers-Danlos syndrome
- Myasthenia gravis
- Native American myopathy
- Noonan syndrome
- Oncogenic osteomalacia
- Poliomyelitis
- Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
- Pontocerebellar hypoplasia type 1
- Postpoliomyelitis syndrome
- Spastic paraplegia type 2
- Spinocerebellar ataxia type 18
- Subacute inflammatory demyelinating polyneuropathy
- Systemic primary carnitine deficiency
- Tay-Sachs disease
- Thyroid ectopia
- TK2-related mitochondrial DNA maintenance defect, myopathic form
- Toxin-mediated infectious botulism
- Walker-Warburg syndrome
- Wound botulism
- X-linked Charcot-Marie-Tooth disease type 5
- X-linked sideroblastic anemia
Common30–79%
10The 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 2 diseases 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
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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.