U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Search results

Items: 2

1.

Tremor, hereditary essential, 5

Hereditary essential tremor-5 (ETM5) is an autosomal dominant neurologic disorder characterized by kinetic, intention, and/or postural tremor mainly affecting the upper limbs. The age at onset and severity are highly variable, even within families (summary by Hor et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of hereditary essential tremor, see ETM1 (190300). [from OMIM]

MedGen UID:
897748
Concept ID:
C4225223
Disease or Syndrome
2.

Myopathy, congenital, with tremor

Congenital myopathy-16 (CMYO16) is an autosomal dominant muscle disorder characterized by onset of hypotonia and tremor in infancy. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. Some may develop secondary mild contractures or spinal deformities. Cognition is normal and the disease course tends to stabilize after adolescence (summary by Stavusis et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000). [from OMIM]

MedGen UID:
1684886
Concept ID:
C5231401
Disease or Syndrome

Supplemental Content

Find related data

Search details

See more...

Recent activity