Rare diseases · Sign or symptom
EMG abnormality
HP:0003457
What it means
Abnormal results of investigations using electromyography (EMG).
Rare diseases that can present with this65
Very common80–99%
36- Adrenomyodystrophy
- Autosomal dominant hypocalcemia
- Cervical hypertrichosis-peripheral neuropathy syndrome
- Charcot-Marie-Tooth disease type 4A
- Congenital muscular dystrophy, Fukuyama type
- Deafness-small bowel diverticulosis-neuropathy syndrome
- Familial dysautonomia
- Gemignani syndrome
- Hereditary continuous muscle fiber activity
- Hyperkalemic periodic paralysis
- Hypokalemic periodic paralysis
- Hypomyelination neuropathy-arthrogryposis syndrome
- Inclusion body myositis
- Isolated glycerol kinase deficiency
- Krabbe disease
- MERRF
- Mitochondrial myopathy and sideroblastic anemia
- Mitochondrial myopathy-lactic acidosis-deafness syndrome
- Monomelic amyotrophy
- Multicentric carpo-tarsal osteolysis with or without nephropathy
- Muscle-eye-brain disease
- Neuralgic amyotrophy
- Neurogenic thoracic outlet syndrome
- Neuronal intranuclear inclusion disease
- O'Sullivan-McLeod syndrome
- Palmoplantar keratoderma-spastic paralysis syndrome
- Peripheral motor neuropathy-dysautonomia syndrome
- Polymyositis
- Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
- Primary orthostatic tremor
- Schwartz-Jampel syndrome
- Spinocerebellar ataxia-dysmorphism syndrome
- Stiff person spectrum disorder
- Thomsen and Becker disease
- Thyrotoxic periodic paralysis
- TRIM32-related limb-girdle muscular dystrophy R8
Common30–79%
21- Acetazolamide-responsive myotonia
- Adult-onset autosomal recessive cerebellar ataxia
- Antisynthetase syndrome
- Ataxia-deafness-intellectual disability syndrome
- Autosomal dominant spastic paraplegia type 38
- Autosomal dominant spastic paraplegia type 73
- Congenital muscular dystrophy due to LMNA mutation
- Fowler urethral sphincter dysfunction syndrome
- Kearns-Sayre syndrome
- Laminin subunit alpha 2-related congenital muscular dystrophy
- Machado-Joseph disease type 3
- Miller Fisher syndrome
- Mitochondrial DNA-related cardiomyopathy and hearing loss
- Mitochondrial DNA-related progressive external ophthalmoplegia
- Multiminicore myopathy
- Myhre syndrome
- Myotonia permanens
- Spastic ataxia-corneal dystrophy syndrome
- Trichinellosis
- Ventilator-induced diaphragmatic dysfunction
- Vocal cord and pharyngeal distal myopathy
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 10 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
Also called: Abnormal electromyography finding · Abnormal EMG · Electromyogram abnormal · EMG abnormalities
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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.