II. Epidemiology

  1. Onset of symptoms before 20 yo

III. Pathophysiology

IV. Symptoms

  1. Headaches
  2. Thirst
  3. Lethargy

V. Signs

  1. Slow progressive weakness
  2. Intermittent muscular paralysis
    1. Shoulder
    2. Pelvic girdle
    3. Other areas follow
  3. Muscle Strength normal between attacks
  4. Deep Tendon Reflexes
    1. Diminished or absent

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Ontology: Familial Periodic Paralysis (C0030443)

Definition (NCI) A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.
Definition (MSH) A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)
Definition (CSP) heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia; these conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle; frequently associated with fluctuations in serum potassium levels; periodic paralysis may also occur as a non-familial process secondary to thyrotoxicosis and other conditions.
Concepts Disease or Syndrome (T047)
MSH D010245
ICD10 G72.3
SnomedCT 54696002, 193241004, 155099000, 267714003, 267607008
English Familial Periodic Paralyses, Paralyses, Familial Periodic, Paralysis, Familial Periodic, Periodic Paralyses, Familial, Periodic Paralysis, Familial, familial periodic paralysis, familial periodic paralysis syndrome (diagnosis), familial periodic paralysis syndrome, Paralysis periodic, Paralyses, Familial Periodic [Disease/Finding], periodic familial paralysis, periodic paralysis familial, periodic paralysis, familial paralysis periodic, paralysis periodic, Familial periodic paralysis, Cavarre disease, Familial myoplegia, Familial recurrent paralysis, Myoplegic dystrophy, Periodic myotonia, Familial periodic paralysis (disorder), paralysis; periodic, periodic; paralysis, Familial periodic paralysis, NOS, Periodic paralysis, Familial periodic paralysis (disorder) [Ambiguous], Familial Periodic Paralysis
Dutch paralyse periodiek, paralyse; periodiek, periodiek; paralyse, familiale periodieke paralyse, Familiale periodieke paralyse, Paralyse, familiale periodieke, Periodieke paralyse, familiale
French Paralysie périodique, Paralysie périodique familiale, Paralysies périodiques familiales
German Laehmung zeitweise, familiaere periodische Laehmung, Familiäre periodische Lähmungen, Lähmungen, familiäre periodische, Periodische Lähmungen, familiäre
Italian Paralisi periodica, Paralisi periodica familiare
Portuguese Paralisia periódica, Paralisia Periódica Normokalêmica, Paralisia periódica familiar, Paralisia Periódica Familiar, Paralisias Periódicas Familiares
Spanish Parálisis periódica, parálisis familiar periódica (trastorno), parálisis familiar periódica, parálisis periódica familiar, parálisis periódica familiar (trastorno), mioplejía familiar, parálisis recurrente familiar, parálisis periódica I, Parálisis Periódica Normokalémica, enfermedad de Cavarre, mioplejía periódica, miotonía periódica, parálisis familiar recurrente, parálisis periódica familiar (concepto no activo), Parálisis periódica familiar, Parálisis Familiar Periódica, Parálisis Periódicas Familiares
Japanese 周期性四肢麻痺, シュウキセイシシマヒ, カゾクセイシュウキセイマヒ, 周期性麻痺-家族性, 周期性四肢麻痺-正常カリウム血性, 正常カリウム血性周期性麻痺, 家族性周期性麻痺, 四肢麻痺-正常カリウム血性周期性, 周期性四肢麻痺-家族性, 周期性麻痺-正常カリウム血性, 正常カリウム血性周期性四肢麻痺, 麻痺-家族性周期性, 麻痺-正常カリウム血性周期性, 四肢麻痺-家族性周期性, 家族性周期性四肢麻痺
Swedish Paralyser, familjära periodiska
Czech paralýzy familiární periodické, Periodická obrna, Familiární periodická obrna
Finnish Familiaaliset periodiset paralyysit
Russian PARALICHI SEMEINYE PERIODICHESKIE, ПАРАЛИЧИ СЕМЕЙНЫЕ ПЕРИОДИЧЕСКИЕ
Polish Porażenie okresowe rodzinne, Porażenie okresowe normokaliemiczne
Hungarian Periódikus paralysis, Familiaris periódikus paralysis
Norwegian Paralyse, familiær periodisk, Periodisk paralyse, familiær, Familiær periodisk paralyse