Amish, Mennonite, and Hutterite
Genetic Disorder Database

Troyer syndrome

Disorder
OMIM #: #275900  (Click to access OMIM database)
Disorder: Troyer syndrome 
Also known as: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE
SPG20 SPASTIC PARAPARESIS, CHILDHOOD-ONSET, WITH DISTAL MUSCLE WASTING SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, TROYER TYPE  
Clinical
Phenotype: distal muscle wasting, dysarthria, difficulty in learning to walk, lower limb spasticity and contractures, drooling, mild cerebellar signs, weakness and atrophy of thenar, hypothenar, and dorsal interosseous muscles 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: SPG20
Base Change: delA, at nucleotide 1110
Amino Acid Change: Frame shift
Last updated: 2019-07-10 

References
Bakowska JC, Wang H, Xin B, Sumner CJ, Blackstone C. (2008) Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?. Arch Neurol 65(4):520-4.
PubMed ID: 18413476 
Cross HE, McKusick VA. (1967) The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol 16(5):473-85.
PubMed ID: 6022528 

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