Infantile-onset X-linked spinal muscular atrophy

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Infantile-onset X-linked spinal muscular atrophy

Synonyms: SMAX2 | Spinal muscular atrophy with arthrogryposis | X-linked distal arthrogryposis multiplex congenita | X-linked spinal muscular atrophy type 2

A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia areflexia profound weakness multiple congenital contractures facial dysmorphic features (myopathic face with open tent-shaped mouth) cryptorchidism and mild skeletal abnormalities (i.e. kyphosis scoliosis) that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

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 April 2024

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Infantile-onset X-linked spinal muscular atrophy?

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Advocacy Organizations

Association Aux Pas du Coeur

Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning 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 so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.

ZC4H2 Research Foundation

The purpose of the ZC4H2 Research Foundation is to support the development of viable therapies and standards of clinical care for the treatment of ZC4H2 Associated Rare Disorders (ZARD), and to be an information and support network for the ZARD community. We advocate for the ZARD community through: Research, Awareness, and Support.

Clinical Trials

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