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Items: 3

1.

Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2

Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD. [from GeneReviews]

MedGen UID:
815798
Concept ID:
C3809468
Disease or Syndrome
2.

Malaria

A life-threatening parasitic disease caused by <i>Plasmodium</i> (<i>P. </i>) parasites that are transmitted by <i>Anophles</i> mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting. [from ORDO]

MedGen UID:
7443
Concept ID:
C0024530
Disease or Syndrome
3.

Plasmodium falciparum malaria

Malaria resulting from infection by Plasmodium falciparum. [from NCI]

MedGen UID:
6185
Concept ID:
C0024535
Disease or Syndrome
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