Example of patient with facial myokymia, a disorder of the seventh nerve, probably due to brain stem involvement. Patient has multiple sclerosis. Discussion of characteristics, such as continuous, undulating, contractions in the distribution of the ...
Kathleen B. Digre, MD
core
HEREDITARY MYOKYMIA AND PAROXYSMAL ATAXIA LINKED TO CHROMOSOME-12 IS RESPONSIVE TO ACETAZOLAMIDE
A sixth family with autosomal dominantly inherited myokymia and paroxysmal ataxia is described. The syndrome in this family is linked to the recently discovered locus for inherited myokymia and paroxysmal ataxia on the human chromosome 12p, and a ...
SCHEFFER, H +6 more
core +1 more source
A GENE FOR EPISODIC ATAXIA/MYOKYMIA MAPS TO CHROMOSOME 12P13
Episodic ataxia (EA) is a rare, familial disorder producing attacks of generalized ataxia, with normal or near-normal neurological function between attacks. Families with autosomal dominant EA represent at least two distinct clinical syndromes.
BROWNE, D +8 more
core
A case of low-frequency myokymia visualized by simultaneous EMG-ultrasound recording. [PDF]
Sugimoto T +8 more
europepmc +1 more source
Superior Oblique Myokymia: Efficacy of Medical Treatment
Superior oblique myokymia (SOM) is an uncommon disorder that manifests as episodic uniocular oscillopsia and diplopia. There have been anecdotal reports concerning the treatment of this disorder but the number of treated patients has been relatively ...
Pamela Williams, MD; Valerie Purvin, MD; Aki Kawasaki, MD
core
A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels. [PDF]
Ortigoza-Escobar JD +7 more
europepmc +1 more source
Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings. [PDF]
Rashedi R +8 more
europepmc +1 more source
Morvan syndrome with pain in both feet as the initial symptom: one case report
CHEN Yuan +4 more
doaj +1 more source
Progressive abnormal gait in an adult Jack Russell Terrier with a homozygous frameshift variant in SETX (senataxin). [PDF]
Shelton GD +6 more
europepmc +1 more source

