PURPOSE To assess clinical efficacy of deep brain stimulation (DBS) of the pallidum in Myoclonus-Dystonia (M-D) patients, and to compare pre- and post-operative striatal dopamine D2 receptor availability. METHODS Clinical parameters were scored using validated rating scales for myoclonus and dystonia. Dopamine D2 receptor binding of three patients was studied before surgery and approximately ...

BACKGROUND The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS) and various overlap syndromes. OBJECTIVE To describe a novel mutation in the ND5 gene in a young man man with an overlap syndrome of MELAS and myoclonus epilepsy with ragge...

Progressive supranuclear palsy (PSP) is a tauopathy that generally results in a hypokinetic disorder. Treatment is largely symptomatic, with some small studies indicating a benefit with dopaminergic therapy. Myoclonus is a hyperkinetic disorder that can be seen as part of later stage Parkinson's disease and in multiple system atrophy, but is rarely seen in PSP. Here we report a case of myoclonu...

Myoclonus-dystonia syndrome (MDS) is a rare disease manifesting myoclonus as the only neurological symptom which may be accompanied by dystonia. It usually starts in the first or second decade of life. It has a benign course with spontaneous remissions but can cause functional disability in some patients. In this paper, we report a patient diagnosed as probable MDS on the basis of clinical and ...

A patient with brain stem reflex myoclonus due to a massive midbrain infarct was studied electrophysiologically. Myoclonic jerks were elicited at variable latencies by tapping anywhere on the body or by acoustic stimuli, and mainly involved flexor muscles of upper extremities. The existence of convergence of somatosensory and acoustic inputs in the brain stem was suggested. This myoclonus seeme...

This is the first reported detailed electrophysiological study of diaphragmatic myoclonus. An 86 year old woman had rapid, intermittent epigastric pulsations. Neurological examination and imaging studies of the brain and spinal cord were normal. Needle EMG showed rhythmic contractions of the diaphragm and external intercostal muscles at 4 to 5 Hz. These contractions were often associated with s...

The progressive myoclonus epilepsies (PMEs) comprise a group of rare and heterogeneous disorders defined by the combination of action myoclonus, epileptic seizures, and progressive neurologic deterioration. Neurologic deterioration may include progressive cognitive decline, ataxia, neuropathy, and myopathy. The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora d...

OBJECTIVE To describe the findings in 59 EEGs from six patients from three generations in a family with autosomal dominant adult neuronal ceroid lipofuscinosis (Parry disease), autopsy proven, with a follow up of 9-21 years. METHODS Descriptive, visual EEG analysis. RESULTS In these patients with epilepsy, myoclonus, dementia and Parkinsonism, EEGs were all severely abnormal, with generaliz...

The term 'myoclonic epilepsy' is used in adults to describe a form of epilepsy in which a sudden, involuntary, and momentary contraction occurs in a single muscle or muscle group, often without apparent loss of consciousness. Such attacks may occur in isolation, or as part of the pattern of epilepsy in patients experiencing grand mal or other forms of epilepsy. A recent authoritative review of ...