Dominant congenital benign spinal muscular atrophy, also known as congenital nonprogressive distal spinal muscular atrophy, is a genetically inherited condition that causes weakening of the limbs of the lower body, and the permanent shortening of lower-limb joints, such as the knee, hip and ankle joints. It is a very rare condition with symptoms affecting people to variable degrees. Some people only experience a general weakness or reduced range of motion of the lower limbs; others have muscles that cannot support their body weight and require a wheel chair to move around.
The condition is caused by a change or mutation in the TRPV4 gene. The condition is inherited in a dominant fashion meaning only one copy of the mutated or changed gene is needed to cause symptoms of the disease. (Please note changes in the TRPV4 gene may cause other disorders including Charcot Marie Tooth disease Type IIc and and scapuloperoneal spinal muscular atrophy.) Treating dominant congenital benign spinal muscular atrophy is dependent on an individual’s symptoms, so talk with your doctor if you or a family member is diagnosed with congenital benign spinal muscular atrophy dominant to discuss the most current treatment options. Genetic counselors can give insight on questions surrounding genetic aspects of the disease and the chances of an individual inheriting it from family members or passing it on to children. Support groups are an good source of information and can help connect you with other families.