The characteristics of idiopathic hypotonic gait are poorly understood. The purpose of this study was to identify biomechanical parameters that differentiate between children with hypotonia and an age-matched control group. Twelve children with idiopathic hypotonia, aged 6–13 years, participated in the study. Twenty-two children with no known disorders, aged 6–13 years, served as a control grou...

OBJECTIVE Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy. Recently, an autosomal-dominant spinocerebellar ataxia (SCA) mutation was identified in a cohort of patients with non-MSA-C sporadic cerebellar ...

THE EFFECTS OF WALKING SURFACE AND VIBRATION ON THE GAIT PATTERN AND VIBRATION PERCEPTION THRESHOLD OF TYPICALLY DEVELOPING CHILDREN AND CHILDREN WITH IDIOPATHIC TOE WALKING by Hsinchen D. Fanchiang The aim of the current study is to investigate novel therapeutic/treatment methods and outcome measurement for children with Idiopathic Toe Walking (ITW). Fifteen typically developing (TD) children ...

Abstract Background Abnormal eye movements are common in spinocerebellar ataxias Type 3 (SCA3). We conducted the research to explore frequency of abnormal Chinese patients with SCA3, compare demographic and clinical characteristics between SCA3 without each type movement, correlation severity ataxia. Methods Seventy-four were enrolled this cross-sectional study. Six types including impaired smo...

Friedrich’s ataxia (FRDA), a neurodevelopmental and progressive neurodegenerative disease, is the most common inherited form of ataxia. Omaveloxolone was approved by US Food Drugs Administration in early 2023, making it first treatment available to patients with FRDA. This approval made possible combining compelling cellular mechanism strong clinical evidence provided through MOXIe study, multi...

BACKGROUND Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy. To date, only a few families with autosomal dominant congenital nonprogressive spinocerebellar ataxia have been reported. Linkage to 3pter was...

Cardiac involvement is common in Friedreich's Ataxia and is a common cause of premature death. Evidence regarding treatment of congestive heart failure in patients with Friedreich's Ataxia is lacking. The case of a 31-year-old male with advanced Friedreich's Ataxia who presented with an acute diarrhoeal illness and features of acute heart failure is discussed. We then review the reported cardia...