Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal recessive
10q22.1
Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities. While the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615673.1 | United Arab Emirates | Female | Yes | Yes | Global developmental delay; Specific lea... Global developmental delay; Specific learning disability  | NM_001195518.1:c.553C>T | Homozygous | Autosomal, Recessive | Saleh et al. 2021 | Affected brother |