Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal recessive
12p13.31
Congenital myasthenic syndrome-25 is an autosomal recessive neuromuscular disorder characterized by hypotonia and generalized muscle weakness apparent from birth. Affected individuals have feeding difficulties and delayed motor development, usually never achieving independent ambulation. Additional variable features include eye movement abnormalities, joint contractures, and rigid spine. Pyridostigmine treatment may be partially effective. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 618323.1 | Lebanon | Male | Yes | Cryptorchidism; Ophthalmoplegia; Hypot... Cryptorchidism; Ophthalmoplegia; Hypotonia; Global developmental delay; Motor delay; Scoliosis; Myopathy; EMG: myopathic abnormalities; Abnormal circulating creatine kinase concentration  | NM_014231.5:c.97C>T | Homozygous | Autosomal, Recessive | Nair et al. 2018 |