Gemignani syndrome

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Gemignani syndrome

Synonyms: Spinocerebellar ataxia-amyotrophy-deafness syndrome | Spinocerebellar ataxia-amyotrophy-hearing loss syndrome

Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia amyotrophy of the hands and distal arms spastic paraplegia progressive sensorineural hearing loss hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Advocacy Organizations

National Ataxia Foundation

The National Ataxia Foundation (NAF) was established in 1957 to help persons with Ataxia and their families. Our mission is to accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia. NAF’s vision of a world without Ataxia will be accomplished through our primary programs of funding Ataxia research, providing vital programs and services fo

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

For a list of clinical trials in this disease area, please click here.