Periodic paralysis

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Periodic paralysis with later-onset distal motor neuropathy

ORPHA:397750Disease

What it is

Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Adolescent, Adult
Inheritance
Mitochondrial inheritance
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes

MT-ATP6Disease-causing germline mutation(s)
MT-ATP8Disease-causing germline mutation(s)

ICD-10 codes

G72.3filed under a broader ICD-10 category — shared with 6 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.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

MONDO 0018343OMIM 500010UMLS C4751573

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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