Don’t fight Malignant hyperthermia arthrogryposis torticollis alone.Find your community on the free RareGuru App.
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2215
An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
The European Malignant Hyperthermia Group has established guidelines for molecular genetic testing of malignant susceptibility and for in-vitro contracture testing. To read more, click on the link.
Last updated on 04-27-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!