neuromyotonia
immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest
Facts
9 properties- Instance of
- designated intractable/rare disease, class of disease[2]
- Subclass of
- peripheral nerve hyperexcitability[4]
- Age of onset
- any age[9]
- Has phenotype
- weight loss, electroencephalography abnormalities, fasciculation, myokymia, muscle cramp, EMG: myokymic discharges, Distal sensory impairment, muscle weakness[10][11][12][13][14][15][16][17]
- Health specialty
- neurology, neuromuscular medicine[7][8]
- NCI Thesaurus ID
- C202012[6]
- Named after
- Hyam Isaacs[3]
- P14914
- D84142[18]
- Prevalence
- +0.000001[5]
🏷️ Also known as
en Quantal squander syndrome
en neuromyotonia
en Peripheral nerve hyperexcitability
en Acquired neuromyotonia
en Continuous muscle fiber activity syndrome
en Isaac-Mertens syndrome
en Isaacs syndrome
ar التقلص العضلي الموجي
de Neuromyotonie
es neuromiotonía
es síndrome de Isaacs
it Sindrome di Isaacs
ja アイザックス症候群
pl Zespół Isaacsa-Mertensa
pt Neuromiotonia
ru Нейромиотония
sv neuromyotoni
tr nöromiyotoni
zh 神經性肌強直
🔖 Identifiers · 22
- OpenAlex ID
- C2778810854
- DiseasesDB
- 31818
- Exact match
- www.orpha.net
- External data available at URL
- www.nanbyou.or.jp
- Freebase ID
- /m/05b15
- GARD rare disease ID
- 6793
- Gran Enciclopèdia Catalana ID
- neuromiotonia
- Gran Enciclopèdia Catalana ID (former scheme)
- 0282249
- Human Phenotype Ontology ID
- HP:0034351
- ICD-10 ID
- G71.1
- ICD-10-CM
- G71.1
- ICD-11 ID (Foundation)
- 646523932
Show all 22 identifiers +10
- ICD-11 ID (MMS)
- 8C71.4
- ICD-9 ID
- 333.90
- MeSH descriptor ID
- D020386
- MeSH tree code
- C05.651.392, C10.668.829.425
- Microsoft Academic ID (discontinued)
- 2778810854
- Mondo ID
- MONDO_0019399
- Orphanet ID
- 84142
- PatientsLikeMe condition ID
- neuromyotonia
- WikiProjectMed ID
- Neuromyotonia
🔗 Connections
Health specialty 1
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Summary
neuromyotonia is a designated intractable/rare disease[1].