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Items: 5

1.

Polycystic kidney disease, adult type

Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by: bilateral renal cysts; cysts in other organs including the liver, seminal vesicles, pancreas, and arachnoid membrane; vascular abnormalities including intracranial aneurysms, dilatation of the aortic root, and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Renal manifestations include hypertension, renal pain, and renal insufficiency. Approximately 50% of individuals with ADPKD have end-stage renal disease (ESRD) by age 60 years. The prevalence of liver cysts, the most common extrarenal manifestation of ADPKD, increases with age and may have been underestimated by ultrasound studies. The prevalence of intracranial aneurysms is higher in those with a positive family history of aneurysms or subarachnoid hemorrhage (22%) than in those without such a family history (6%). Mitral valve prolapse, the most common valvular abnormality, occurs in up to 25% of affected individuals. Substantial variability in severity of renal disease and other extrarenal manifestations occurs even within the same family. [from GeneReviews]

MedGen UID:
88404
Concept ID:
C0085413
Congenital Abnormality; Disease or Syndrome
2.

Paroxysmal dyskinesia

Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. [from HPO]

MedGen UID:
156242
Concept ID:
C0752210
Disease or Syndrome
3.

Rheumatic chorea

WHAT: Chorea. Chorea (Sydenham's): a neurological disorder characterized by purposeless, rapid, involuntary movements, emotional lability, and muscular weakness. WHY: Sydenham's chorea is seen in rheumatic fever. The chorea may be associated with other rheumatic manifestations or it may present as the sole expression of rheumatic fever. HOW: Typically, the onset of chorea is gradual, with irritability, uncooperativeness, fits of anger, crying, and inappropriate behavior present before the choreiform movements are noted. The movements are rapid and jerky, unlike the slower, rhythmic motion seen in athetosis. Characteristically, on raising his arms above the head, the patient turns the arms so as to oppose the backs of the hands. The patient is unable to sustain a tetanic muscular contraction. On squeezing an examiner's hand the patient can only provide a repetitive, spasmodic grip which is overly pronated and is similar to the motion of milking a cow (milk-maid's grip). The patient's facial expression alternates between frowning, grinning and grimacing. His tongue darts in and out of his mouth. His speech is slurred and vacillates between a halting and an explosive rhythm. The deep tendon reflexes tend to be pendular, i.e., when the knee jerk is elicited with the patient sitting, the leg swings back and forth four or five times like a pendulum, rather than one or two times as in a normal person. Chorea is most common prior to puberty, and in females. It is occasionally seen in adult women but never in adult men. REFS: 1) Jones criteria (revised) for guidance in the diagnosis of rheumatic fever. Circulation 32:664, 1965. 2) Cooper, IS: Involuntary Movement Disorders. New York: Hoeber, 1969. [from AIR]

MedGen UID:
57506
Concept ID:
C0152113
Disease or Syndrome
4.

Metabolic disease

A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. [from NCI]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
5.

Unspecified encephalopathy

A functional and/or structural disorder of the brain caused by diseases (e.g. liver disease, kidney disease), medications, chemicals, and injuries. [from NCI]

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
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