U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Search results

Items: 5

1.

Spinocerebellar ataxia type 28

Spinocerebellar ataxia type 28 (SCA28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in coordination and balance problems, dysarthria, ptosis, nystagmus, and ophthalmoparesis. In most individuals, SCA28 presents as a loss of coordination of lower limbs (unsteadiness, gait ataxia). Less frequently, ptosis/ophthalmoplegia, dysarthria, or upper-limb incoordination may occur as the initial finding. The course of the disease is slowly progressive without impairment of functional autonomy even decades after onset. [from GeneReviews]

MedGen UID:
339941
Concept ID:
C1853249
Disease or Syndrome
2.

Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1

Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016). Genetic Heterogeneity of PEBEL See also PEBEL2 (618321), caused by mutation in the NAXD gene (615910) on chromosome 13q34. [from OMIM]

MedGen UID:
934642
Concept ID:
C4310675
Disease or Syndrome
3.

Lissencephaly 7 with cerebellar hypoplasia

Lissencephaly-7 with cerebellar hypoplasia (LIS7) is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (Magen et al., 2015). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). [from OMIM]

MedGen UID:
895680
Concept ID:
C4225359
Disease or Syndrome
4.

Congenital myopathy 11

Congenital myopathy-11 (CMYP11) is an autosomal recessive skeletal muscle disorder characterized clinically by severe hypotonia apparent at birth, resulting in early feeding problems, motor delay, and walking difficulties. However, the course of the disease is nonprogressive: most affected individuals achieve independent ambulation and tend to show improvement of muscle weakness throughout childhood and early adulthood. There is no respiratory or cardiac involvement; cognitive development is normal. Muscle biopsy may show rare centralized nuclei, type 1 fiber hypotrophy, and type 1 fiber predominance, suggestive of a pathologic diagnosis of congenital fiber-type disproportion (CFTD). However, the findings on skeletal muscle biopsy may be nonspecific (Muhammad et al., 2013). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000). [from OMIM]

MedGen UID:
462881
Concept ID:
C3151531
Disease or Syndrome
5.

Abnormal activity of mitochondrial respiratory chain

An increased or decreased activity of the mitochondrial respiratory chain. [from HPO]

MedGen UID:
868721
Concept ID:
C4023126
Finding
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...