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Items: 15

1.

Adult polyglucosan body neuropathy

MedGen UID:
865555
Concept ID:
C4017118
Finding
2.

GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR

MedGen UID:
865554
Concept ID:
C4017117
Finding
3.

GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC

MedGen UID:
865553
Concept ID:
C4017116
Finding
4.

GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC

MedGen UID:
865552
Concept ID:
C4017115
Finding
5.

GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC

MedGen UID:
865551
Concept ID:
C4017114
Finding
6.

GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR

MedGen UID:
865550
Concept ID:
C4017113
Finding
7.

Cirrhosis, familial, with deposition of abnormal glycogen

MedGen UID:
422464
Concept ID:
C2936914
Disease or Syndrome
8.

Gsd IV, neuromuscular form, fatal perinatal

MedGen UID:
383883
Concept ID:
C1856303
Disease or Syndrome
9.

Glycogen storage disease IV, classic hepatic

MedGen UID:
383882
Concept ID:
C1856301
Disease or Syndrome
10.

GSD iv, nonprogressive hepatic

MedGen UID:
344701
Concept ID:
C1856302
Disease or Syndrome
11.

GSD iv, neuromuscular form, adult, with isolated myopathy

MedGen UID:
343525
Concept ID:
C1856306
Disease or Syndrome
12.

Glycogen storage disease IV, childhood neuromuscular

MedGen UID:
343524
Concept ID:
C1856305
Disease or Syndrome
13.

Glycogen storage disease IV, congenital neuromuscular

MedGen UID:
343523
Concept ID:
C1856304
Disease or Syndrome
14.

GLYCOGEN STORAGE DISEASE IV, CHILDHOOD NEUROMUSCULAR

MedGen UID:
334651
Concept ID:
C1842961
Finding
15.

Glycogen storage disease, type IV

The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ages of onset, severity, and clinical features. Clinical findings vary extensively both within and between families. The fatal perinatal neuromuscular subtype presents in utero with fetal akinesia deformation sequence (FADS) with decreased fetal movements, polyhydramnios, and fetal hydrops. Death usually occurs in the neonatal period. The congenital neuromuscular subtype presents in the newborn period with profound hypotonia, respiratory distress, and dilated cardiomyopathy. Death usually occurs in early infancy. Infants with the classic (progressive) hepatic subtype may appear normal at birth, but rapidly develop failure to thrive; hepatomegaly, liver dysfunction, and progressive liver cirrhosis; hypotonia; and cardiomyopathy. Without liver transplantation, death from liver failure usually occurs by age five years. Children with the non-progressive hepatic subtype tend to present with hepatomegaly, liver dysfunction, myopathy, and hypotonia; however, they are likely to survive without progression of the liver disease and may not show cardiac, skeletal muscle, or neurologic involvement. The childhood neuromuscular subtype is rare and the course is variable, ranging from onset in the second decade with a mild disease course to a more severe, progressive course resulting in death in the third decade. [from GeneReviews]

MedGen UID:
6642
Concept ID:
C0017923
Disease or Syndrome
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