Hypokalaemic periodic paralysis is typically associated with mutations of voltage sensor residues in calcium or sodium channels of skeletal muscle. To date, causative sodium channel mutations have been studied only for the two outermost arginine residues in S4 voltage sensor segments of domains I to III. These mutations produce depolarization of skeletal muscle fibres in response to reduced ext...

Transient periodical muscle paralysis is an important neurological presentation. Thyrotoxic hypokalemic paralysis is an uncommon type of thyrotoxic paralysis. Except for the findings specifically caused by the subtle hyperthyroid state the clinical and biochemical features of thyrotoxic hypokalemic paralysis are identical to those of familial periodic paralysis. In this article, a case of a 26 ...

BACKGROUND AND PURPOSE Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal muscle sodium channelopathy. These disorders include hyperkalemic periodic paralysis (HYPP), hypokalemic periodic paralysis, paramyotonia congenita (PMC), potassium-aggravated myo...

Muscle disorders are a common cause of disability in horses. For many years, clinical manifestations such as muscle pain, exercise intolerance, weakness, and stiffness were believed to be caused by a single syndrome. However, in the past years a broad spectrum of muscle disorders have been recognized including glycogen and polysaccharide storage myopathies, malignant hyperthermia, mitochondrial...

BACKGROUND Diseases that cause acute flaccid paralysis (AFP) often progress rapidly, thus may cause life threatening complications, therefore, their diagnosis and cure are important. This study was carried out to investigate the causes of acute generalized weakness in children referred to Amirkola Children's Hospital, in Babol, Iran. METHODS In this case series, the epidemiological causes of ...

Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene SCN4A have been reported to be responsible for this disease. Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis reveal...

OBJECTIVES To measure the attentional distraction to the facial paralysis deformity using eye-tracking, and to distinguish between attention paid to the upper and lower facial divisions in patients with complete paralysis. We hypothesized that features affected by the paralysis deformity would distract the casual observer, leading to an altered pattern of facial attention as compared to normals...

This paper is intended simnply as a record of the more important features of the etidemic of poliomyelitis in Northern Ireland in the summer and autumn of 1947-the worst epidemic yet recorded in this country. INCIDENCE IN PREVIOUS YEARS BEFORE 1947 no large-scale outbreak of poliomyelitis in Northern Ireland was recorded, but available records show that sporadic cases occurred each year since 1...