symptomatic paramyotonia - определение. Что такое symptomatic paramyotonia
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Что (кто) такое symptomatic paramyotonia - определение

HUMAN DISEASE
Paramyotonia Congenita; Eulenburg Disease; Paralysis periodica paramyotonia; Paramyotonia congenita of von Eulenburg; Von Eulenberg's disease

Aglossia         
CONGENITAL DISORDER OF DIGESTIVE SYSTEM
Symptomatic dyslalia; Paraglossia
Aglossia (aglossia congenita) is a congenital defect resulting in a partial development or complete absence of a tongue.
Pretzel syndrome         
Pretzel syndrome is a rare disorder characterized by skeletal deformity, malformation of the brain (with accompanying seizures), electrolyte imbalances, and variable malformations of the heart and other organs.
asymptomatic         
  • [[Pulmonary contusion]] due to trauma is an example of a condition that can be asymptomatic with half of people showing no signs at the initial presentation. The [[CT scan]] shows a pulmonary contusion (red arrow) accompanied by a [[rib fracture]] (purple arrow).
CONDITION OR STATE OF DISEASE IF A PATIENT IS A CARRIER FOR THE DISEASE OR INFECTION BUT EXPERIENCES NO SYMPTOMS
Subclinical; Sub-clinical; Clinically silent; Asymptomatic condition; Asymptomatic carrior; Subclinical symptoms; Silent disease; Asymptomatic infection; Presymptomatic; Pre-symptomatic; Paucisymptomatic
If someone with a disease is asymptomatic, it means that they do not show any symptoms of the disease. (MEDICAL)
I have patients who are HIV-positive and asymptomatic.
ADJ

Википедия

Paramyotonia congenita

Paramyotonia congenita (PC) is a rare congenital autosomal dominant neuromuscular disorder characterized by "paradoxical" myotonia. This type of myotonia has been termed paradoxical because it becomes worse with exercise whereas classical myotonia, as seen in myotonia congenita, is alleviated by exercise. PC is also distinguished as it can be induced by cold temperatures. Although more typical of the periodic paralytic disorders, patients with PC may also have potassium-provoked paralysis. PC typically presents within the first decade of life and has 100% penetrance. Patients with this disorder commonly present with myotonia in the face or upper extremities. The lower extremities are generally less affected. While some other related disorders result in muscle atrophy, this is not normally the case with PC. This disease can also present as hyperkalemic periodic paralysis and there is debate as to whether the two disorders are actually distinct.