Disease Information for Periodic paralysis, familial

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Clinical Manifestations
Signs & Symptoms
Acute Motor Weakness
Episodic muscle weakness
Muscle tone/decreased
Symmetrical muscle/pain, weakness
Weak/Weak as a kitten (symptom)
Abdominal reflex decreased
Absent deep tendon reflexes
Absent knee reflexes
Ankle reflexes absent
Flaccid muscle paralysis
Intermittant flaccid paralysis
Paralysis
Weakness/Diffuse motor loss
Shallow breathing
Acutely ill patient/signs
Enervated/extreme acute fatigue
Episodic symptoms/events
Spells/Episodes of weakness
Weakness
Weakness non-neuromuscular/systemic
Disease Progression
Course/Attacks Episodic Spells
Course/Chronic disease crisis/flare/attacks
Course/Chronic disorder
Course/Chronic only
Course/Intermittant
Course/Paroxysmal
Course/Periodic Episodic
Course/slow resolution of attack/hours
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Event, Activity, Behavioral & Seasonal Factors
Activity/Jogging/running
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings - Decreased
Lactic acid/Lactate (Lab)
Phosphate Serum (Lab)
Potassium, serum (Lab)
Uric acid, serum (Lab)
URINE Chloride
URINE Potassium
Abnormal Lab Findings - Increased
Aldolase, serum (Lab)
Ketones, plasma (Lab)
Potassium, serum (Lab)
Pyruvate, plasma (Lab)
URINE Aldosterone
URINE Protein (Albumin)
Diagnostic Test Results
Electrodiagnosis
EMG/Myotonic muscle activity
Associated Diseases & Rule outs
Rule Outs
Guillain-Barre syndrome
Hypokalemia
Hypokalemic periodic paralysis
Muscular dystrophy
Associated Disease & Complications
Acute respiratory failure/Respiratory arrest
Biochemical myopathy
Hypokalemia
Hypophosphatemia
Hypouricemia
Periodic paralysis syndrome
Periodic paralysis, familial
Proteinuria
Respiratory muscle weakness
General paralysis/General Paresis
Disease Mechanism & Classification
Class
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Striated muscle disorder (ex)
Pathophysiology
Pathophysiology/Metabolic myopathy (ex)
Process
PROCESS/Biochemical (category)
PROCESS/Episodic disorder (ex)
PROCESS/Ethnic predilection (ex)
PROCESS/Metabolic/storage disorder (category)
Treatment
Drug Therapy - Indication
RX/Acetazolamide (Diamox)
RX/Potassium
Other Treatments
TX/Genetic counselling
Definition

A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)

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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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