Diseases of the nervous system
Systemic atrophies primarily affecting the central nervous system
4q25
SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615030.1 | Lebanon | Unknown | Yes | Neurodevelopmental delay; Ataxia; Spasti... Neurodevelopmental delay; Ataxia; Spastic diplegia; Aplasia/hypoplasia of the extremities  | NM_183075.3:c.533G>C | Homozygous | Autosomal, Recessive | Jalkh et al. 2019 | ||
| 615030.2 | Saudi Arabia | Female | No | Yes | Periventricular leukomalacia; Leukodystr... Periventricular leukomalacia; Leukodystrophy; Hypertonia; Spasticity | NM_183075.3:c.947A>T | Homozygous | Autosomal, Recessive | Monies et al. 2017 | |
| 615030.3 | Saudi Arabia | Female | Yes | Hypertonia; Spasticity; Hypotonia; Brisk... Hypertonia; Spasticity; Hypotonia; Brisk reflexes | NM_183075.3:c.947A>T | Homozygous | Autosomal, Recessive | Monies et al. 2017 | ||
| 615030.4 | Saudi Arabia | Male | No | Yes | Spasticity; Spastic diplegia Spasticity; Spastic diplegia | NM_183075.3:c.947A>T | Homozygous | Autosomal, Recessive | Monies et al. 2017 |