UNASSIGNED: Paroxysmal exercise-induced @entity910 (PED) are @entity910 which manifest as @entity3520 brought on by sustained exercise. @entity69356 deficiency-induced EID was recently described by Olgiati et al. Our @entity1 is an 8-year-old @entity1 , who presented with intermittent episodes of @entity2693 and contractions affecting the legs which were always brought on by vigorous exertion. They began with curling of the toes and flexion, followed by stiffening of gait. These episodes were asymmetric, uncomfortable and often began in the left leg, often spreading to the right leg. They generally lasted for about 30-40  min. The phenomenology was noted to be @entity3520 affecting mostly the left leg, with equinus at the ankle and hyperextension at the knee. MRI of the brain showed regions of increased T2 and FLAIR signal and of T1 low signal in the globus pallidus bilaterally with mild diffusion restriction. Using Ambry's ExomeNext(TM), an integrated exome sequencing assay, the @entity1 was found to be heterozygous for alterations in the @entity69356 gene: missense mutations in @entity69357 ( @entity69358 ) and @entity69359 ( @entity46497 ). After 3  months of treatment with a mitochondrial cocktail, the @entity1 reported that his attacks were somewhat less frequent and less severe. We decided to continue the @entity1 on the cocktail and prescribed @entity2053 0.5  mg 1 tab to be given, as needed, for acute @entity3520 episodes of severe degree. The missense mutation @entity69359 has never been associated with PED before. Further, we present the first case of @entity34234 -associated PED with initial symptomatic improvement with a mitochondrial cocktail.

@entity69356 deficiency-associated paroxysmal exercise-induced XXXX : case presentation and initial benefit of intervention.

@entity1 :: ('9606', 'Species') :: ['patient', 'boy'] @entity69358 :: ('p|SUB|A|173|V', 'ProteinMutation') :: ['p.A173V'] @entity3520 :: ('MESH:D020821', 'Disease') :: ['dystonic movements', 'dystonic'] @entity69356 :: ('1892', 'Gene') :: ['ECHS1'] @entity69359 :: ('c|SUB|A|817|G', 'DNAMutation') :: ['c.817A>G'] @entity910 :: ('MESH:D004409', 'Disease') :: ['dyskinesias', 'paroxysmal dyskinesias'] @entity69357 :: ('c|SUB|C|518|T', 'DNAMutation') :: ['c.518C>T'] @entity46497 :: ('p|SUB|K|273|E', 'ProteinMutation') :: ['p.K273E'] @entity34234 :: ('1891', 'Gene') :: ['ECH1'] @entity2053 :: ('MESH:D002998', 'Chemical') :: ['clonazepam'] @entity2693 :: ('MESH:C566112', 'Disease') :: ['stiffness']
@entity910 :: (MESH:D004409,Disease) :: ['dyskinesias']
