Rett syndrome (RS) is one of the most frequent causes of mental retardation in females. As there are no known biochemical, genetic, or morphological markers, diagnosis is based on clinical phenotype including severe dementia, autism, truncal ataxia/apraxia, loss of purposeful hand movements, breathing abnormalities, stereotypies, seizures, and extrapyramidal signs. Myoclonus, although reported ...

Mitochondrial dysfunction is an important cause of neurological disease. Mitochondrial disease can present at any age, and the clinical features are extremely varied. The FIG. 1. Neurophysiological exam of the boy at 3 years of age, performed during a myoclonic attack involving the left upper limb: Polymyographic recording (A and B) shows profuse continuous positive rhythmic (8-Hz) myoclonus co...

OBJECTIVE To describe a case with a new genetic variant of type 3 Gaucher disease presenting with stimulus-sensitive and action myoclonus in the presence of selective dentate abnormalities. DESIGN Clinical, pathologic, and molecular genetic studies. SETTING Medical school departments. PATIENT A 6-year-old girl with type 3 Gaucher disease experienced progressively crippling generalized sti...

The progressive myoclonus epilepsies, featuring the triad of myoclonus, seizures, and ataxia, comprise a large group of inherited neurodegenerative diseases that remain poorly understood and refractory to treatment. The Cystatin B gene is mutated in one of the most common forms of progressive myoclonus epilepsy, Unverricht-Lundborg disease (EPM1). Cystatin B knockout in a mouse model of EPM1 tr...

OBJECTIVE To assess the efficacy of bilateral deep brain stimulation of the internal pallidum in patients with myoclonus-dystonia due to genetically proved ε-sarcoglycan (SGCE-M-D) deficiency. DESIGN Patients with documented SGCE-M-D undergoing bilateral deep brain stimulation of the internal pallidum were recruited. Standardized assessments of M-D were videorecorded before surgery and 6 to 9...

BACKGROUND Unusual presentations of multiple sclerosis (MS) at onset may post a diagnostic dilemma to the treating neurologists. Spinal myoclonus is rare in MS and may lead to perform extensive investigations to rule out other etiologies affecting the spinal cord. CASE PRESENTATION We described a 31-year-old male who presented with involuntary brief jerky movements of the left shoulder and ar...

We report a case of a 36-year-old woman with progressive generalized myoclonus that first became apparent 9 years ago. Her younger brother had similar problems. Examination of her eyes revealed cherry-red spots. Hexosaminidase A, β-galactosidase and neuraminidase activity were normal. Although the laboratory findings were negative, cherry-red spots, progressive myoclonus and autosomal recessive...

Two patients with opsoclonus-myoclonus syndrome are reported whose magnetic resonance imaging (MRI) showed brain stem lesions. Both patients developed the opsoclonus-myoclonus syndrome after an upper respiratory illness. One case had visual hallucinations during the course of illness and MRI revealed a focal lesion in the pons involving the junction of basis and tegmentum. MRI of the second cas...

This is the first case reported of vomiting-induced metabolic alkalosis associated with myoclonus. The report describes an unusual presentation of myoclonus secondary to acid-base disturbance caused by recreational drug-induced vomiting. The severe derangement of hyponatraemia, hypokalaemia, and alkalosis appears to have been reasonably well tolerated due to the gradual onset and relatively lon...

Myoclonus dystonia syndrome is a rare movement disorder featured by myoclonic jerks and dystonia. We identified here a point mutation in ε-sarcoglycan gene exon 6 associating with inherited myoclonus dystonia syndrome in a Chinese Han family. The mutation identified induces a stop codon and terminates the transcription of ε-sarcoglycan mRNA. This in turn results in a large truncation of ε-sarco...