Orphanet: Autosomal recessive spastic paraplegia type 67

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Autosomal recessive spastic paraplegia type 67

Disease definition

Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.

Detailed information

General public

Article for general public
Français (2015, pdf) - Fondation Groupama
Svenska (2020) - Socialstyrelsen

Disability

Disability factsheet
Français (2018, pdf) - Orphanet

: produced/endorsed by ERN(s)
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: produced/endorsed by FSMR(s)

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Autosomal recessive spastic paraplegia type 67

ORPHA:401820

A summary on this disease is available in Deutsch (2018) Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski (2019)

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