Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal recessive
22q11.21
Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic, as well as by pathologic mechanism and electrophysiologic studies. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 618197.1.1 | United Arab Emirates | Female | Yes | Yes | Failure to thrive; Bilateral ptosis; Hyp... Failure to thrive; Bilateral ptosis; Hypoglycemia; Easy fatigability; Systolic heart murmur; Lumbar hyperlordosis; Pes planus  | NM_005984.5:c.205G>T | Homozygous | Autosomal, Recessive | AlShamsi et al. 2021 | Index patient - 'pat... |
| 618197.1.2 | United Arab Emirates | Male | Yes | Yes | Bilateral ptosis; Easy fatigability; Inc... Bilateral ptosis; Easy fatigability; Increased muscle fatiguability | NM_005984.5:c.205G>T | Heterozygous, Homozygous | Autosomal, Recessive | AlShamsi et al. 2021 | 'Patient III-10' in ... |
| 618197.1.3 | United Arab Emirates | Female | Yes | Yes | Bilateral ptosis; Easy fatigability; Eso... Bilateral ptosis; Easy fatigability; Esotropia; Facial diplegia; Abnormality of eye movement | NM_005984.5:c.205G>T | Homozygous | Autosomal, Recessive | AlShamsi et al. 2021 | Relative of 618197.1... |
| 618197.1.4 | United Arab Emirates | Male | Yes | Yes | Bilateral ptosis; Easy fatigability; Inc... Bilateral ptosis; Easy fatigability; Increased muscle fatiguability | NM_005984.5:c.205G>T | Homozygous | Autosomal, Recessive | AlShamsi et al. 2021 | 'Patient III-11' in ... |