Orphanet: Autosomal recessive spastic paraplegia type 61

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Autosomal recessive spastic paraplegia type 61

Disease definition

Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.

ORPHA:401780

Classification level: Disorder

Synonym(s):
- SPG61
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy
ICD-10: G11.4
ICD-11: 8B44.01
OMIM: 615685
UMLS: C3810294
MeSH: -
GARD: -
MedDRA: -

Detailed information

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

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Disability factsheet
Français (2018, pdf) - Orphanet

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Autosomal recessive spastic paraplegia type 61

ORPHA:401780

A summary on this disease is available in Deutsch (2016) Español (2016) Italiano (2016) Nederlands (2016) Polski (2016, pdf)

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