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Periodic paralysis with later-onset distal motor neuropathy

MedGen UID:
1670241
•Concept ID:
C4751573
•
Disease or Syndrome
Synonym: periodic paralysis with later-onset distal motor neuropathy
SNOMED CT: Periodic paralysis with later-onset distal motor neuropathy (774154008)
Modes of inheritance:
Mitochondrial inheritance
MedGen UID:
165802
•Concept ID:
C0887941
•
Genetic Function
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).
Mitochondrial inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018343
Orphanet: ORPHA397750

Definition

A rare genetic neuromuscular disease with characteristics of acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset chronic slowly progressive distal axonal neuropathy. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeriodic paralysis with later-onset distal motor neuropathy

Recent clinical studies

Therapy

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
Auré K, Dubourg O, Jardel C, Clarysse L, Sternberg D, Fournier E, Laforêt P, Streichenberger N, Petiot P, Gervais-Bernard H, Vial C, Bedat-Millet AL, Drouin-Garraud V, Bouillaud F, Vandier C, Fontaine B, Lombès A
Neurology 2013 Nov 19;81(21):1810-8. Epub 2013 Oct 23 doi: 10.1212/01.wnl.0000436067.43384.0b. PMID: 24153443

Clinical prediction guides

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
Auré K, Dubourg O, Jardel C, Clarysse L, Sternberg D, Fournier E, Laforêt P, Streichenberger N, Petiot P, Gervais-Bernard H, Vial C, Bedat-Millet AL, Drouin-Garraud V, Bouillaud F, Vandier C, Fontaine B, Lombès A
Neurology 2013 Nov 19;81(21):1810-8. Epub 2013 Oct 23 doi: 10.1212/01.wnl.0000436067.43384.0b. PMID: 24153443

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