Dystonia and developmental delay became apparent at age 8 months. Nasogastric tube feeding and gastrostomy with Nissen's fundoplication were performed at age 7 and 12 months, respectively. She was treated with baclofen, trihexyphenidyl, and antireflux therapy, without benefit. She became severely ...
In some patients, Parkinson’s causes other motor symptoms, including vision problems such as blurred vision or difficulty looking up, painful muscle cramps (dystonia), and difficulty maintaining an upright posture which can lead to stooping and abnormal curvature of the spine (scoliosis or kyphosis...
We report on an Italian family in which three brothers and their maternal grandfather had a generalized early-onset dystonia with mild parkinsonian signs. ... G Fabbrini,F Brancati,L Vacca,... - 《Movement Disorders》 被引量: 0发表: 2005年 Phenotypic expression of the DYT1 mutation: a fami...
We characterized a patient presenting with early-onset dystonia-parkinsonism later complicated by dementia and myoclonus. Brain MRI showed signs of iron accumulation in the basal ganglia mimicking neurodegeneration with brain iron accumulation (NBIA) as well as fronto-temporal atrophy. Whole exome ...
However, in an increasing number of patients it is now possible to identify the underlying cause, since it has become clear that CP can be part of several genetic syndromes. Many treatable metabolic and genetic diseases such as dopa-responsive dystonia may be misdiagnosed as CP [18, 19]. ...
Dopa‐responsive childhood dystonia: a forme fruste with writer's cramp; triggered by exercise The changes on- and off-treatment were documented with videofilms and computerized analysis of writing samples. The situation has been stable during a 5-year follow-up. We draw attention to this 'forme...
No patient ever exhibited infantile spasms, dystonia, or Rett-like features. Our results illustrate that mutation screening of ARX and CDKL5 is not effective in patients selected on the basis of clinical signs associated to early onset SMEI/DS. In addition, they might reflect that other ...
Patients with AD can also present with corticobasal syndrome (CBS), characterized by predominant motor and sensory symptoms (including limb rigidity, bradykinesia, dystonia, myoclonus, apraxia, alien limb phenomenon). Unlike PCA and lvPPA, CBS is not highly predictive of underlying AD neuropathology—...
Autosomal dominant (AD) guanosine triphosphate cyclohydrolase 1 (GCH1) deficiency is the most common cause of dopa-responsive dystonia (DRD). Patients with GCH1 deficiency are likely to experience diagnostic delay, but its consequences have not been described thoroughly in patients with early-onset ...
Sudomotor or oedema signs: oedema and/or sweating asymmetry iv. Motor or trophic signs: decreased range of motion, and/or muscle weakness, tremor, dystonia, and/or trophic changes of hair, nails, skin.(4) No other diagnosis better explains the symptoms and signs. 展开 ...