Cramp-fasciculation syndrome

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Cramp-fasciculation syndrome

ORPHA:581271Disease

What it is

A rare genetic neurological disorder characterized by adult onset of peripheral nerve hyperexcitability causing painful muscle cramps and fasciculations in the limbs, hyperreflexia, stiffness, and muscle pain. Other hypersensitivity-hyperexcitability symptoms are asthma, gastroesophageal reflux, migraine, tremor, cold hyperalgesia, and cardiac conduction defects. Autonomic signs and symptoms, neuropathic pain, cognitive deficits, and anxiety are also observed.

Key facts

Age of onset
Adult
Inheritance
Autosomal dominant
Classified as
Disease

Gene

TRPA1Disease-causing germline mutation(s)

ICD-10 codes

G90.8filed under a broader ICD-10 category — shared with 9 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 6205MEDDRA 10081974MONDO 0035586OMIM 604775UMLS C0751381

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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