Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME): Probable first family from India

Abstract

Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) is an extremely rare syndrome characterized by familial occurrence of postural and action-induced tremors of the hands but showing electrophysiologic findings of cortical reflex myoclonus. Patients also have cognitive decline and tonic-clonic seizures, often precipitated by sleep deprivation or photic stimulation. We describe probably the first family from India of this ill-defined syndrome.

Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review

“…They can be mild, but can also be more incapacitating. 17 , 27 , 47 , 57 , 58 When present in the lower limbs, these may lead to gait disorders 17 , 36 – 38 , 58 , 61 and even “drop attacks”. 16 , 18 These tremor-like movements during action can easily be mistaken for ET.…”

“…Stimulus-sensitive myoclonus, frequently present in FCMTE, may be triggered or worsened by alcohol, emotional stress, sleep deprivation, tactile stimuli, and photic/phonic stimulation. 16 , 17 , 21 , 37 , 47 , 56 , 57 , 62 Twitching movements can involve facial/axial muscles. 16 , 21 , 57 , 58 Alcohol responsiveness has been reported in two pedigrees.…”

“… 16 , 17 , 21 , 37 , 47 , 56 , 57 , 62 Twitching movements can involve facial/axial muscles. 16 , 21 , 57 , 58 Alcohol responsiveness has been reported in two pedigrees. 16 , 58 Myoclonus may remain stable, but long-term follow-up is not always present.…”

“… 18 , 40 , 41 Also, myoclonus has been reported to worsen with progressing age. 10 , 16 , 17 , 21 , 36 , 57 , 58 , 63 …”

“…- Cerebellar findings include in French pedigrees mild ataxia and gait instability, 17 , 37 , 38 , 62 (downbeat) nystagmus increasing with hyperventilation in a Dutch pedigree, 14 and dysarthria in South African/French pedigrees. 10 , 38 Ataxia is not a feature of FCMTE 16 , 17 , 27 , 47 , 57 , 58 , 60 , 65 but subtle cerebellar signs have not explicitly been ruled out.…”