Familial paroxysmal dystonic choreoathetosis revisited

Abstract

A case of familial paroxysmal dystonic choreoathetosis (PDC) documented by video/EEG monitoring is described. The father of the proband is affected by exertional cramping but not PDC, lending support to the previous hypothesis that exertional cramping may represent a "forme fruste" or the incomplete expression of PDC. Other family members affected by PDC are women, with exercise-induced cramping alone found in two men. Two of the women report prolonged exertion as a precipitant of lengthy spells consistent with typical PDC rather than the previously described "intermediate," exercise-induced form of PDC. Exertional cramping in families affected by PDC may represent the variable expression of the "dystonia gene" in male members. Conversely, exercise-induced PDC, both of the intermediate and longer form described here, may have a predilection to manifest in women.

Familial paroxysmal exercise‐induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance

“…1). Only a few sporadic and familial cases of PED have been described in literature 1–9. Familial paroxysmal choreoathetosis or dyskinesia associated with familial epilepsy have rarely been reported 10–15…”

A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study

“…Indeed, there have been reports of families with features of both PNKD and PED. In the family with PNKD reported by Schloesser et al 24 two affected female members described exercise as a precipitant of attacks that were longer than usual attacks of PED and more typical of PNKD. Prolonged exertion induced PNKD attacks in three of five family members with PNKD reported by Kurlan et al 25.…”

Paroxysmal dystonic choreoathetosis: Clinical features and investigation of pathophysiology in a large family

“…Striking sleep responsiveness is in fact reported in individuals from five other families with PDC (Table 3), and the effect of sleep is not specifically mentioned in the other large PDC families, although Schloesser et al 15 note that attacks were shortened by rest during the prodrome. This phenomenon is unusual enough that it may be considered to be a distinguishing characteristic of the condition although its absence should not rule out the diagnosis.…”

“…5,7,16 Eleven other well-documented families with definite PDC have been reported in the English language literature since 1940. 1,5,6,9,[15][16][17][18][19][20][21] The clinical features of these families are summarized in Table 3. In addition, sporadic cases and pairs of affected siblings, as well as families with atypical features such as spastic paraplegia, have been reported.…”

“…No family members experienced exertional cramps which have previously been suggested to be a forme fruste of PDC. 15 In all cases the onset of symptoms was in early childhood. Exact age at onset is not known for many family members, most of whom had had symptoms as long as they were able to remember.…”