Rett syndrome and associated movement disorders

  title={Rett syndrome and associated movement disorders},
  author={Patrick M Fitzgerald and Joseph Jankovic and Alan K. Percy},
  journal={Movement Disorders},
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 characterized their extrapyramidal disturbance. The most common motor abnormalities were stereotyped movements and gait disturbance, seen in all patients. Bruxism, oculogyric crises, parkinsonism, and dystonia were also common, but myoclonus and… Expand
Rett Syndrome : An Overlooked Diagnosis in Women with Stereotypic Hand Movements , Psychomotor Retardation , Parkinsonism , and Dystonia ?
Rett syndrome is an X-linked neurodevelopmental disorder resulting in profound psychomotor retardation. It is usually diagnosed by a pediatrician or pediatric neurologist. Adult neurologists may,Expand
Rett syndrome: An overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
The case of a woman diagnosed with Rett syndrome at age 49 years is reported, emphasizing the diagnostic value of movement disorders, including hand stereotypies, Parkinsonism, and dystonia, in adults with Ritt syndrome. Expand
Rett syndrome: Neurologic and metabolic aspects
Rett syndrome (RTT) is a neurodevelopmental disorder that occurs almost exclusively in females. It was described in 1954 by Andreas Rett, an Australian neuropediatrician. After a period of apparentlyExpand
Rett Syndrome as a movement and motor disorder - A narrative review.
  • S. Brunetti, D. Lumsden
  • Medicine
  • European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
  • 2020
Further work is required to explore the relative contribution of dystonia and rigidity to hypertonia in RTT, as well as the impact of these impairments when present. Expand
Rett Syndrome – an update
  • K. Jellinger
  • Psychology, Medicine
  • Journal of Neural Transmission
  • 2003
Summary. Rett syndrome is a progressive, usually sporadic and rarely familial, disabling neurodevelopmental disorder with onset in early childhood presenting clinically with mental retardation,Expand
Rett Syndrome – an update Review
Rett syndrome is a progressive, usually sporadic and rarely familial, disabling neurodevelopmental disorder with onset in early childhood presenting clinically with mental retardation, behavioralExpand
Cortical reflex myoclonus in rett syndrome
RS patients show a distinctive pattern of cortical reflex myoclonus with prolonged intracortical delay of the long‐loop reflex, indicating integrity of the corticospinal pathway. Expand
Rett Syndrome: Clinical Aspects
Within the past few years, an explosion in the investigation of disease-specific treatments has occurred, and targeted drugs will soon be available to help girls and women with RTT. Expand
Myoclonic status misdiagnosed as movement disorders in Rett syndrome: A video-polygraphic study
A rare and complete video- polygraphic study of a girl with Rett syndrome (MECP2 mutation) and MS misdiagnosed as movement disorders and disclosed after video-polygraphic recordings, which shows the MS improved and disappeared after the use of levetiracetam. Expand
Secondary dystonias
The following review will discuss epidemiology, genetics, pathogenesis, neuroimaging, neuropathology, clinical manifestation, clinical course and differential diagnosis of secondary dystonias. Expand


Extrapyramidal involvement in Rett's syndrome
The types of movement disorders seemed to be age-related, with the hyperkinetic disorders occurring in the younger patients and the bradykinetic Disorders occurring more frequently in the older patients. Expand
Rett syndrome. A commonly overlooked progressive encephalopathy in girls.
We report 15 cases of Rett syndrome, a slowly progressive disorder that occurs only in girls and is characterized by early deterioration of higher brain function with dementia and autistic behavior,Expand
Neuropathology of Rett syndrome.
The variety of lesions in the central, neuroendocrine and peripheral neuromuscular systems in Rett syndrome are discussed with regard to their clinical and biochemical significance. Expand
Rett syndrome: clinical profile and EEG abnormalities.
We studied 7 children with Rett Syndrome, characterized by behavioral and motor abnormalities which superficially resemble infantile autism, and reviewed the records of 4 adults with the sameExpand
Electroencephalographic findings in Rett syndrome.
Electroencephalographic testing promises to be a powerful tool in confirming the diagnosis in a compatible setting, in follow-up of these patients, and in objective evaluation of any future therapeutic interventional modalities in this serious and common condition. Expand
Clinical recognition of Rett syndrome.
  • M. Philippart
  • Medicine
  • American journal of medical genetics. Supplement
  • 1986
Key manifestations helpful in diagnosing Rett syndrome include progressive loss of previously acquired psychomotor skills, apraxia with loss of use of hands and legs, and "handwashing" automatisms.Expand
Rett Syndrome: Review and Discussion of Current Diagnostic Criteria
Rett syndrome is a mental retardation syndrome that occurs only in females and consists of normal pre-, peri-, and neonatal growth and development. It is followed by rapid neurobehavioralExpand
Scoliosis in Rett syndrome.
Eight of 10 females with Rett syndrome evaluated at the Alfred I. duPont Institute have C-shaped neuromuscular curves, and Curve progression was seen in all eight patients and occurred despite bracing in four, averaging 21 degrees (range 12-31 degrees). Expand
Rett's Syndrome: Progression of Symptoms From Infancy to Childhood
Metabolic interference, a recently hypothesized form of inheritance, may occur in this syndrome, which initially manifested by a delay of further motor development and the appearance of autistic traits. Expand
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
The exclusive involvement of females, correlated with findings in family data analyses, suggests a dominant mutation on one X chromosome that results in affected girls and nonviable male hemizygous conceptuses. Expand