Nikolaus, German neurologist, 1825-1882. See: Friedreich ataxia, Friedreich phenomenon, Friedreich sign.
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Examples include Friedreich ataxia (OMIM 229300), myotonic dystrophy (OMIM 160900) and fragile X syndrome (OMIM 158900).
All the works of Friedreich, however, the smallest as well as the most extensive, have a common and characteristic character; built on the firm foundation of pathological anatomy, they are distinguished by a universal historical and literary knowledge, by an all-encompassing comprehension and control of the substance, by the thoroughness and clarity of the representation.
The prevalence of the autosomal recessive type of HA is roughly estimated to be 3:100,000 with ataxia-telangiectasia, Friedreich ataxia, and ataxia with oculomotor apraxia being the most frequent.
The CAP proficiency test program code MGL2, hereafter termed MGL2 Survey, contains challenges (proficiency testing samples) for SCA types 1, 2, 3, 6, and 7, and for several other heritable disorders: Duchenne/Becker muscular dystrophy, myotonic dystrophy, Friedreich ataxia, hemoglobin C and S, Huntington disease, cystic fibrosis, Rh blood group D antigen, and spinal muscular atrophy.
The major differential diagnosis of CANVAS are spinocerebellar ataxia type 3 (SCA3), Friedreich ataxia (FRDA), multiple system atrophy of cerebellar type, and Wernicke encephalopathy [3].
The Indian expat, who suffers from a rare degenerative muscular disorder called Friedreich Ataxia, said dealing with challenges has been a way of life for her.
Geraint Williams, 39, was diagnosed with the rare inherited disease Friedreich ataxia (FA) 10 years ago.
Friedreich ataxia patients, who were clinically diagnosed based on the Harding diagnostic criteria [10,11] by a neurologist, applied to our hospital for rehabilitation.
Genetic tests to exclude Friedreich ataxia and spinocerebellar ataxia 1, 2, 3, 6, 7, 12, 17, and 36 were performed.
Disorders in iron metabolism have been shown to cause many neurodegenerative diseases such as Parkinson's disease, Alzheimer's disease, Huntington's disease, Hallervorden-Spatz disease, and Friedreich disease [17,18].
In conjunction with the acquisition, PTC acquires the gene therapy programmes in development, GT-FA, GT-AS, and GT-RLN, for Friedreich Ataxia, Angelman Syndrome and Cognitive Disorders associated with several neurodevelopmental and neurodegenerative disorders, respectively.