Browse Items (18 total)

Childhood-onset movement disorders represent a heterogenous group of conditions. Given the complexity of these disorders, the transition of care from pediatric to adult medicine is an important consideration. We performed a scoping review of the…

Movement disorders are one of the important neurological manifestations of inherited metabolic disorders. Important clues to the presence of an underlying inborn error of metabolism are early onset, presence of neuroregression or degeneration,…

No controlled studies exist regarding the pharmaceutical reduction of ataxia symptoms in ataxia telangiectasia (A-T). In a multicenter, double-blind, randomized, placebo-controlled crossover trial, oral betamethasone (BETA) and placebo were compared…

Individuals with Rett syndrome (RTT) can have variable manifestations of stereotypies. In this nation-wide cross-sectional study, we recruited all individuals with RTT in Taiwan diagnosed as RTT by neurologists based on genetic findings and…

Stereotypies in Rett syndrome (RTT) are a diagnostic hallmark present in all stages of the disease, but descriptions of movement disorders in adults are very scant. Among 30 patients with RTT followed-up at San Paolo Hospital in Milan, we selected…

Rett syndrome (RS) is one of the best human models to study movement disorders. Patients evolve from a hyperkinetic to a hypokinetic state, and a large series of abnormal movements may be observed along their lives Such as stereotypies, tremor,…

The sleep patterns of a cohort of 83 Rett syndrome females were characterized using a sleep diary for 7 consecutive days and nights and compared with normative sleep data. The mean total sleep time of the cohort was 10.75 h, daytime sleep 0.77 h,…

Sixty patients with disabling myoclonus excluding mainly spinal myoclonus were treated by piracetam as an open-labeled study, and myoclonus score, neurological symptoms, functional disability, and intensity of myoclonus were scored before and after…

Objective. To use a meta-analysis on all reported cases of deep brain stimulation (DBS) for dystonia to determine which factors significantly influence outcome. The Burke-Fahn-Marsden (BFM) movement scale, the most reported measure, was chosen as the…

Background: Rett syndrome (RTT) and autism disorder (AD) are 2 neurodevelopmental disorders of early life that share phenotypic features, one being hand stereotypies. Distinguishing RTT from AD often represents a challenge, and given their distinct…

Rett syndrome, a progressive neurodegenerative disorder described only in female subjects, is manifested by a wide spectrum of behavioral and motor abnormalities. We studied 32 patients with this disorder, ages 30 months to 28 years old, and…

BACKGROUND: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the…

Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. Video data in familiar settings were obtained on subjects (n = 144) identified from an Australian population-based database. I-land…

Clinicians require scientifically rigorous, clinically meaningful rating scales to evaluate the health impact of disease and treatment that cannot be measured using conventional laboratory instruments. This study evaluated the psychometric properties…

To test the validity and reliability of the scale for the assessment and rating of ataxia (SARA) in Friedreich ataxia (FRDA). SARA is limited to eight items and can be performed rapidly. Ninety-six patients with a molecular genetic diagnosis of FRDA…

Lesch-Nyhan disease (LND) is characterized by dystonia, cognitive abnormalities, and self-injurious behavior. No effective therapies are available. LND is associated with a presynaptic dopaminergic deficit, but the reported effects of dopamine…

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