Teaching Video NeuroImages: Characteristic head jerks in congenital oculomotor apraxia due to Joubert syndrome
نویسندگان
چکیده
منابع مشابه
Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia
We describe two sisters who presented in early childhood with motor delay and unusual eye movements. Both demonstrated hypotonia and poor visual attention. The older girl at 14 weeks of age showed fine pendular horizontal nystagmus more pronounced on lateral gaze, but despite investigation with cranial MRI no diagnosis was reached. The birth of her younger sister four years later with a similar...
متن کاملTeaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy.
A 21-year-old woman presented with clinically classic signs of Ullrich congenital muscular dystrophy (figure). Genetic testing of collagen VI genes revealed a homozygous mutation c.2329T.C, p.Cys777Arg in the COL6A2 gene, consistent with the clinical diagnosis. Collagen type VI–related disorders represent a spectrum of overlapping phenotypes: Bethlem myopathy at the milder end, and Ullrich cong...
متن کاملTeaching video neuroimages: callosal apraxia: a straightforward model of ideomotor apraxia.
A 57-year-old right-handed man complained of difficulty using his hands post-coronary artery bypass graft (figure). Neurologic examination revealed signs of callosal disconnection without hemiparesis. When asked to perform limb gestures like "brush your teeth" or "wave goodbye," the right hand performed flawlessly whereas the left hand was severely apraxic (video on the Neurology Web site at ww...
متن کاملTeaching Video NeuroImages: myokymia and nerve hyperexcitability as components of Morvan syndrome due to malignant thymoma.
A 50-year-old woman with a history of metastatic malignant thymoma presented with diffuse neuropathic pain involving the extremities and torso prior to chemotherapy and radiation. She also developed episodic diarrhea, diaphoresis, fevers, insomnia, and encephalopathy. Examination revealed rippling muscles (video on the Neurology® Web site at www.neurology.org). Prolonged afterdischarges were no...
متن کاملTeaching Video NeuroImages: Electromyographic variation in stiff-person syndrome.
A 58-year-old man diagnosed with stiff-person syndrome presented with increased axial muscle tone (video 1, links.lww.com/WNL/A42). A successional electromyographic video in the right rectus abdominis demonstrated a large quantity of continuous motor unit potentials at rest. One minute after administration of diazepam, motor unit potentials were extraordinarily attenuated. However, 10 minutes a...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Neurology
سال: 2019
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000008109