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Items: 5

1.

MYOTONIC DYSTROPHY 1

A rare autosomal dominant disorder caused by mutations in the DMPK gene. It is characterized by myotonia, muscular dystrophy, hypogonadism, heart conduction defects and cataracts. [from NCI]

MedGen UID:
886881
Concept ID:
C3250443
Disease or Syndrome
2.

Congenital myotonia, autosomal dominant form

Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the “warm-up” phenomenon). Muscles are usually hypertrophic. The autosomal recessive form of myotonia congenita is often associated with more severe symptoms than the autosomal dominant form. Individuals with the autosomal recessive form may have progressive, minor distal weakness and attacks of transient weakness brought on by movement after rest. The age of onset is variable: in autosomal dominant myotonia congenita, onset of symptoms is usually in infancy or early childhood; in the autosomal recessive form, the average age of onset is slightly older. In both, onset may be as late as the third or fourth decade of life. [from GeneReviews]

MedGen UID:
422446
Concept ID:
C2936781
Disease or Syndrome
3.

Proximal myotonic myopathy

A multisystemic disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21). [from SNOMEDCT_US]

MedGen UID:
419137
Concept ID:
C2931689
Disease or Syndrome
4.

Congenital myotonia, autosomal recessive form

Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the “warm-up” phenomenon). Muscles are usually hypertrophic. The autosomal recessive form of myotonia congenita is often associated with more severe symptoms than the autosomal dominant form. Individuals with the autosomal recessive form may have progressive, minor distal weakness and attacks of transient weakness brought on by movement after rest. The age of onset is variable: in autosomal dominant myotonia congenita, onset of symptoms is usually in infancy or early childhood; in the autosomal recessive form, the average age of onset is slightly older. In both, onset may be as late as the third or fourth decade of life. [from GeneReviews]

MedGen UID:
155852
Concept ID:
C0751360
Disease or Syndrome
5.

Myotonia levior

MedGen UID:
82861
Concept ID:
C0270959
Disease or Syndrome
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