SNUPN-related muscular dystrophy with or without multi-system involvement

A form of congenital muscular dystrophy in which the cause of the disease is pathogenic variation in the SNUPN gene. The phenotype is typically characterized by a variable degree of muscle weakness, elevated serum creatinine kinase, and myopathic signs in skeletal muscle. Extra-muscular features involving the ocular, skeletal, respiratory, and central nervous system may also be present.

Also known as: limb-girdle muscular dystrophy autosomal recessive 29

5 clinical trials for this condition and its sub-types, 0 tagged with SNUPN-related muscular dystrophy with or without multi-system involvement itself.