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GENATLAS PHENOTYPE
last update : 25/11/2008
Symbol SDWHD
Location 16q23.1
Name spasticity, dystonia, and white matter degeneration
Corresponding gene FA2H
Main clinical features
  • complex spastic paraparesis, normal early development and onset at 46 years of age with gait disturbance due to lower-limb spasticity
  • between 712 years of age, spasticity extended to the upper limbs; dystonia was evident from a few years of onset, involving trunk, limbs, and face and interfering with articulation and swallowing; deteriorated cognitive abilities with age
  • cerebellar dysfunction with dysmetria and dysdiadochokinesis were additionally noted and at midadolescence, the patients lost ambulation
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)