Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

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A rare neurologic disease characterized by bilateral cataract Dandy-Walker malformation and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and to a much lesser degree also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.

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://www.orphadata.org. Data version May 2024

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Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome?

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Advocacy Organizations

Association Aux Pas du Coeur – Côte d’ivoire

Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession to be able to make a final diagnosis and ensure continuous monitoring of patients easily.

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Clinical Trials

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