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Items: 13

1.

Becker muscular dystrophy

The dystrophinopathies include a spectrum of muscle disease caused by pathogenic variants in DMD, which encodes the protein dystrophin. The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated dilated cardiomyopathy (DCM) when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed milestones, including delays in sitting and standing independently. Proximal weakness causes a waddling gait and difficulty climbing. DMD is rapidly progressive, with affected children being wheelchair dependent by age 13 years. Cardiomyopathy occurs in individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness; some individuals remain ambulatory into their 20s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM. [from GeneReviews]

MedGen UID:
182959
Concept ID:
C0917713
Disease or Syndrome
2.

Vitelliform macular dystrophy type 2

Best vitelliform macular dystrophy is a slowly progressive macular dystrophy with onset generally in childhood and sometimes in later teenage years. Affected individuals initially have normal vision followed by decreased central visual acuity and metamorphopsia. Individuals retain normal peripheral vision and dark adaptation. Age of onset and severity of vision loss show inter- and intrafamilial variability. [from GeneReviews]

MedGen UID:
137920
Concept ID:
C0339510
Disease or Syndrome
3.

Osteoporotic fracture

Breaks in bones resulting from low bone mass and microarchitectural deterioration characteristic of OSTEOPOROSIS. [from MeSH]

MedGen UID:
101059
Concept ID:
C0521170
Disease or Syndrome
4.

Generalized osteoporosis

Osteoporosis is a disease that thins and weakens the bones. Your bones become fragile and break easily, especially the bones in the hip, spine, and wrist. In the United States, millions of people either already have osteoporosis or are at high risk due to low bone mass. Anyone can develop osteoporosis, but it is more common in older women. Risk factors include. -Getting older . -Being small and thin . -Having a family history of osteoporosis. -Taking certain medicines. -Being a white or Asian woman. -Having low bone density. Osteoporosis is a silent disease. You might not know you have it until you break a bone. A bone mineral density test is the best way to check your bone health. To keep bones strong, eat a diet rich in calcium and vitamin D, exercise, and do not smoke. If needed, medicines can also help. It is also important to try to avoid falling down. Falls are the number one cause of fractures in older adults. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
5.

Osteoporosis

MedGen UID:
776590
Concept ID:
C2911643
Finding
6.

Indicated

MedGen UID:
731837
Concept ID:
C1444656
Finding
7.

Pathogenesis

specific processes that generate the ability of an organism to cause disease [from CHV]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
8.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
9.

Wounds - qualifier

MedGen UID:
9475
Concept ID:
C0021501
Finding
10.

Osteoporotic fracture of bone

MedGen UID:
830233
Concept ID:
C3853140
Pathologic Function
11.

Broad carpal bones

MedGen UID:
767532
Concept ID:
C3554618
Finding
12.

At risk of osteoporotic fracture

MedGen UID:
695608
Concept ID:
C1272017
Finding
13.

Enthesopathy of wrist AND/OR carpus

MedGen UID:
510508
Concept ID:
C0158311
Disease or Syndrome
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