Amish, Mennonite, and Hutterite
Genetic Disorder Database

Spastic paraplegia 56

Disorder
OMIM #: #615030  (Click to access OMIM database)
Disorder: Spastic paraplegia 56 
Also known as: SPG56 
Clinical
Phenotype: 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 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: CYP2U1
Base Change: c.1206_1207delAG
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

Back