Rare diseases · Sign or symptom
EMG: myopathic abnormalities
HP:0003458
What it means
The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.
Rare diseases that can present with this63
Very common80–99%
14- Adenylosuccinate synthetase-like 1-related distal myopathy
- Adult-onset nemaline myopathy
- Bethlem muscular dystrophy
- Childhood-onset nemaline myopathy
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- Distal myopathy, Welander type
- Immune-mediated necrotizing myopathy
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- KLHL9-related early-onset distal myopathy
- Muscle filaminopathy
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- Tubular aggregate myopathy
- Ullrich congenital muscular dystrophy
- Zebra body myopathy
Common30–79%
39- Acyl-CoA dehydrogenase 9 deficiency
- Adult-onset distal myopathy due to VCP mutation
- Alpha-B crystallin-related late-onset myopathy
- Amish nemaline myopathy
- Anoctamin-5-related limb-girdle muscular dystrophy R12
- Autosomal dominant centronuclear myopathy
- Autosomal dominant Charcot-Marie-Tooth disease type 2E
- Autosomal dominant Emery-Dreifuss muscular dystrophy
- Autosomal dominant progressive external ophthalmoplegia
- Autosomal recessive distal nebulin myopathy
- Autosomal recessive Emery-Dreifuss muscular dystrophy
- Caribbean parkinsonism
- Congenital muscular dystrophy without intellectual disability
- Congenital myopathy with myasthenic-like onset
- Cystinosis
- Dermatomyositis
- Distal myopathy, Tateyama type
- Distal myotilinopathy
- Emery-Dreifuss muscular dystrophy
- Facioscapulohumeral dystrophy
- Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
- Glycogen storage disease due to acid maltase deficiency
- Glycogen storage disease due to aldolase A deficiency
- Glycogen storage disease due to muscle phosphorylase kinase deficiency
- Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
- GNE myopathy
- Hereditary myopathy with early respiratory failure
- HNRNPA1-related adult-onset distal myopathy
- Idiopathic camptocormia
- Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
- Intermediate nemaline myopathy
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- Neutral lipid storage disease with ichthyosis
- Oculoauriculovertebral spectrum with radial defects
- Plectin-related limb-girdle muscular dystrophy R17
- Postsynaptic congenital myasthenic syndrome
- Tibial muscular dystrophy
- X-linked Emery-Dreifuss muscular dystrophy
Sometimes5–29%
10- Chylomicron retention disease
- Congenital myasthenic syndrome
- Hypotonia-speech impairment-severe cognitive delay syndrome
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
- Laing distal myopathy
- Lower motor neuron syndrome with late-adult onset
- Microform holoprosencephaly
- Paramyotonia congenita of Von Eulenburg
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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: EMG: myopathic changes · EMG: myopathy · Myopathic electromyogram
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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.