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Periodic hypokalemic paresis

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Hypokalemic periodic paresis
HPO: HP:0008153


Episodes of muscle weakness associated with reduced levels of potassium in the blood. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeriodic hypokalemic paresis

Conditions with this feature

Osteopetrosis with renal tubular acidosis
MedGen UID:
Concept ID:
Disease or Syndrome
Osteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.\n\nAutosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. \n\nIn individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.\n\nAutosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.\n\nA few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.\n\nOther features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).
Andersen Tawil syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described.

Recent clinical studies


Munir A
J Coll Physicians Surg Pak 2014 May;24 Suppl 2:S99-100. PMID: 24906287
Chui C, Chen WH, Yin HL
Med Princ Pract 2014;23(1):80-2. Epub 2013 Jul 26 doi: 10.1159/000351573. PMID: 23899956Free PMC Article
Shah M, Mutneja R, Vyas D, Trivedi R, Silverstein N
Conn Med 2013 Sep;77(8):487-9. PMID: 24156178
Nagele W, Hörmann J, Nagele J
Wien Med Wochenschr 2009;159(5-6):156-9. doi: 10.1007/s10354-009-0644-1. PMID: 19343293
Feldman ML, Hadfield S
J Emerg Med 2009 Apr;36(3):236-8. Epub 2007 Aug 2 doi: 10.1016/j.jemermed.2007.03.011. PMID: 17976782


Henshaw DS, Harstroem C, Forest D
A A Pract 2021 Mar 30;15(4):e01431. doi: 10.1213/XAA.0000000000001431. PMID: 33783398
Munir A
J Coll Physicians Surg Pak 2014 May;24 Suppl 2:S99-100. PMID: 24906287
Nagele W, Hörmann J, Nagele J
Wien Med Wochenschr 2009;159(5-6):156-9. doi: 10.1007/s10354-009-0644-1. PMID: 19343293
Tran HA, Reeves GE
Am J Med Sci 2008 Dec;336(6):515-8. doi: 10.1097/MAJ.0b013e3181643e3d. PMID: 19092328
Dave-Sharma S, Sharma J
Clin Pediatr (Phila) 2006 May;45(4):382-3. PMID: 16703167

Clinical prediction guides

Nagele W, Hörmann J, Nagele J
Wien Med Wochenschr 2009;159(5-6):156-9. doi: 10.1007/s10354-009-0644-1. PMID: 19343293
Bazzani M, Benati L, Bosi M, Iorini M, Panizza M
Ital J Neurol Sci 1998 Oct;19(5):307-9. doi: 10.1007/BF00713857. PMID: 10933451

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