Diseases of the nervous system
Diseases of myoneural junction and muscle
7q34
Autosomal dominant myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Thomsen disease is less common and less severe than Becker disease. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 160800.1 | Lebanon | Unknown | Yes | Global developmental delay; Optic atroph... Global developmental delay; Optic atrophy; Spinocerebellar tract degeneration; Polyneuropathy  | NM_000083.3:c.2786delC | Heterozygous | Autosomal, Dominant | Jalkh et al. 2019 |