Hypokalemic Periodic Paralysis September 27, 2018 by Peter Ciszewski Hypokalemic periodic paralysis (HOKPP) is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels (hypokalemia). [checkrare.com]

The young mayor also managed to keep the community engaged by bringing an auto show to Central Falls and a monthly Salsa Night in the summer, which has attracted plenty of locals as well as dancers from other parts of Rhode Island. [miguelacorona.com]

[…] the new categories of neuromuscular disease that have arisen from the research of the last two decades, the physician and the patient still have to confront the real situation in the clinic — the man who can no longer climb ladders, the child who's falling [mda.org]

The boys fall frequently and have difficulty keeping up with friends when playing. Running, jumping, and hopping are invariably abnormal. By age 5 years, muscle weakness is obvious by muscle testing. [basicmedicalkey.com]

[…] evaluate muscle disorders with confidence "Overall, this is a well written and comprehensive textbook of muscle pathology that will be of invaluable assistance to laboratories reporting muscle pathology" Reviewed by The Bulletin of The Royal College of Pathologists [books.google.com]

This is a very simple and minor outpatient procedure in which a small sample of a part of a muscle is removed from a small incision and subsequently analyzed by the pathologist. [hickoryneurology.net]

The pathologist's report Biopsies of muscle, and occasionally of nerves, used to be a mainstay of definitive diagnosis. [mda.org]

disorder Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet Friedreich ataxia Aicardi-Goutieres syndrome type 5 Corneodermatoosseous syndrome Ankyloblepharon filiforme adnatum cleft palate Renpenning syndrome [checkrare.com]

Patients may complain of difficulty climbing stairs or fixing their hair in the morning. These disorder can be due to genetic disorders, inflammatory disorders and metabolic disorders among others. [hickoryneurology.net]

There were no other neurological abnormalities and no diag- nostic skin lesions. Laboratory studies gave normal results for C P K, EMCi and urine metabolic screen. [docslide.com.br]

lip palate psychomotor retardation Pillay syndrome Glucose-galactose malabsorption Spastic ataxia Charlevoix-Saguenay type Autosomal dominant palmoplantar keratoderma and congenital alopecia McKusick Kaufman syndrome Branchial arch syndrome X-linked [checkrare.com]

Hi\ medical history records six febrile seizures and one afebrile seizure. An EEG and skull series Mere normal and phenobarbital therapy was started. E e refraction revealed aseverecorrectable myc\pia. [docslide.com.br]

seizures, and sinoatrial block Miyoshi myopathy MYH7-related scapuloperoneal myopathy Multiple system atrophy Hirschsprung's disease Pseudoneonatal adrenoleukodystrophy Bangstad syndrome Spondylocarpotarsal synostosis syndrome Eosinophilic fasciitis [checkrare.com]

Four febrile convulsions occurred between 18 months and three years. EEG, skull series and chromosome analysis were negative. Severe myopia was detected at five years. Family history is noted in Case 1. [docslide.com.br]

[…] neurocutaneous Mucopolysaccharidosis type IIIC Macrozoospermia Ichthyosis prematurity syndrome Chromosome 12p duplication Acro-pectoro-renal field defect Spinal muscular atrophy 1 Facial onset sensory and motor neuronopathy Brachydactyly type B Infantile convulsions [checkrare.com]

TABLE 462e-2 OBSERVATIONS ON EXAMINATION THAT DISCLOSE MUSCLE WEAKNESS FIGURE 462e-4 Gowers’ sign showing a patient using his arms to climb up the legs in attempting to get up from the floor. [basicmedicalkey.com]