Rare diseases · Sign or symptom
Myopathy
Muscle tissue disease
HP:0003198
What it means
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this102
Very common80–99%
34- Adrenomyodystrophy
- Adult-onset nemaline myopathy
- Autosomal dominant Emery-Dreifuss muscular dystrophy
- Autosomal recessive Emery-Dreifuss muscular dystrophy
- Childhood-onset nemaline myopathy
- Combined immunodeficiency due to CRAC channel dysfunction
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
- Congenital muscular dystrophy, Fukuyama type
- Cystinosis
- Distal myopathy, Welander type
- Emery-Dreifuss muscular dystrophy
- Epidermolysis bullosa simplex with muscular dystrophy
- Familial isolated hypoparathyroidism
- Glutamate-cysteine ligase deficiency
- Immune-mediated necrotizing myopathy
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- Isolated glycerol kinase deficiency
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- Marinesco-Sjögren syndrome
- MERRF
- Mitochondrial myopathy and sideroblastic anemia
- Mitochondrial myopathy-lactic acidosis-deafness syndrome
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- Multiminicore myopathy
- Muscle-eye-brain disease
- Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
- Muscular pseudohypertrophy-hypothyroidism syndrome
- Oculogastrointestinal muscular dystrophy
- Oculopharyngeal muscular dystrophy
- Rigid spine syndrome
- TRIM32-related limb-girdle muscular dystrophy R8
- Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
- X-linked Emery-Dreifuss muscular dystrophy
- Xp21deletion syndrome
Common30–79%
37- Acquired partial lipodystrophy
- Acyl-CoA dehydrogenase 9 deficiency
- Alpha-mannosidosis, infantile form
- Autosomal dominant optic atrophy plus syndrome
- Autosomal dominant progressive external ophthalmoplegia
- Autosomal recessive progressive external ophthalmoplegia
- Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
- Cardiomyopathy-hypotonia-lactic acidosis syndrome
- Carnitine palmitoyltransferase II deficiency
- Carnitine palmitoyl transferase II deficiency, severe infantile form
- Central core disease
- Choreoacanthocytosis
- Congenital muscular dystrophy due to LMNA mutation
- Congenital myasthenic syndrome with glycosylation defect
- Congenital myopathy with myasthenic-like onset
- DNA2-related mitochondrial DNA deletion syndrome
- Glycogen storage disease due to glycogen branching enzyme deficiency
- Glycogen storage disease due to glycogen debranching enzyme deficiency
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Horizontal gaze palsy with progressive scoliosis
- Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
- L-Arginine:glycine amidinotransferase deficiency
- MELAS
- Musculocontractural Ehlers-Danlos syndrome
- MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- Myopathic Ehlers-Danlos syndrome
- NAD(P)HX dehydratase deficiency
- Neutral lipid storage disease with ichthyosis
- Neutral lipid storage disease with myopathy
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- Schwartz-Jampel syndrome
- Scleromyxedema
- Spinocerebellar ataxia with epilepsy
- Synaptic congenital myasthenic syndrome
- Tibial muscular dystrophy
- TRAPPC11-related limb-girdle muscular dystrophy R18
- X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
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: Myopathic changes
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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.