Isolated eyelid closure myotonia in two families with sodium channel myotonia
نویسندگان
چکیده
منابع مشابه
Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita.
The cause of increased excitability in autosomal dominant myotonia congenita (MyC) was studied in resealed greater than 3-cm long segments of muscle fibres from eight patients. Three hours after biopsy only about 50% of the fibre segments had regained a normal resting potential. This differs from our experiences with normal muscle or other disorders of myotonia (e.g. recessive generalized myoto...
متن کاملTeaching Video NeuroImages: sodium channel myotonia can present with stridor.
An 11-month-old girl presented with episodic severe stridor from birth, often resulting in cyanosis. Her parents had noted recurrent unilateral ptosis. Later she developed spasms of her hands during exercise. Psychomotor development was normal. Neurologic examination showed generalized hypertonia. Cerebral MRI excluded a Chiari malformation. Laryngoscopy under general anesthesia showed no abnor...
متن کاملTeaching video neuroimages: cold-induced eyelid myotonia.
A 48-year-old man presented with episodic paraplegia and stiffness of hands, face, and tongue, along with eyelid myotonia when exposed to cold temperature, which he had since childhood. Eyelid myotonia was evoked either by exposure to cold weather (video on the Neurology® Web site at www.neurology.org and figure 1) or by forceful eye closure. Myotonia was elicited with percussion of the tongue ...
متن کاملMyotonia fluctuans. A third type of muscle sodium channel disease.
OBJECTIVES To define a new type of dominant myotonic muscle disorder and to identify the gene lesion. DESIGN Case series, clinical examination and electromyography, measurements of grip force and relaxation time, and DNA analysis to probe for mutation in the gene for the skeletal muscle sodium channel. SETTING Outpatient clinic and home. PATIENTS Three families studied; all together, 17 a...
متن کاملInhibiting persistent inward sodium currents prevents myotonia
OBJECTIVE Patients with myotonia congenita have muscle hyperexcitability due to loss-of-function mutations in the ClC-1 chloride channel in skeletal muscle, which causes involuntary firing of muscle action potentials (myotonia), producing muscle stiffness. The excitatory events that trigger myotonic action potentials in the absence of stabilizing ClC-1 current are not fully understood. Our goal...
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: neurogenetics
سال: 2009
ISSN: 1364-6745,1364-6753
DOI: 10.1007/s10048-009-0225-x