Which are the symptoms of Ullrich Congenital Muscular Dystrophy?

Ullrich Congenital Muscular Dystrophy (UCMD) is a rare genetic disorder that primarily affects the muscles and connective tissues. It is classified as a form of congenital muscular dystrophy, which means it is present from birth. UCMD is caused by mutations in the genes responsible for producing collagen VI, a protein that plays a crucial role in maintaining the structural integrity of muscles.

The symptoms of UCMD can vary in severity from person to person, but they generally become apparent during infancy or early childhood. Here are some of the common symptoms associated with Ullrich Congenital Muscular Dystrophy:

Muscle weakness: One of the hallmark symptoms of UCMD is muscle weakness, which can affect various muscle groups throughout the body. Infants with UCMD may have difficulty lifting their heads, sitting up, or crawling. As they grow older, they may experience progressive muscle weakness, making it challenging to walk or perform everyday tasks.

Joint contractures: Many individuals with UCMD develop joint contractures, which are characterized by the limited range of motion in the joints. This can lead to stiffness and difficulty in extending or flexing certain limbs. Joint contractures commonly affect the knees, elbows, hips, and ankles.

Delayed motor milestones: Children with UCMD often experience delays in reaching motor milestones such as sitting, standing, and walking. These delays are primarily due to muscle weakness and impaired muscle function.

Respiratory difficulties: UCMD can also affect the muscles involved in breathing, leading to respiratory difficulties. Some individuals may have weak respiratory muscles, which can result in shallow breathing or the need for respiratory support. Respiratory complications can vary in severity and may require medical intervention.

Skeletal abnormalities: In some cases, UCMD can cause skeletal abnormalities, such as scoliosis (curvature of the spine) or joint deformities. These skeletal issues can further contribute to mobility challenges and may require orthopedic interventions.

Hyperextensible skin: Another characteristic feature of UCMD is hyperextensible skin, which means the skin can be stretched more than usual. This can be observed in areas such as the elbows, knees, and fingers.

Intellectual impairment: While not present in all cases, some individuals with UCMD may experience intellectual impairment or developmental delays. These cognitive challenges can range from mild to severe and may impact learning and overall intellectual functioning.

Other symptoms: Additional symptoms that may be present in individuals with UCMD include muscle cramps, joint pain, fatigue, and feeding difficulties in infancy.

It is important to note that the severity and progression of symptoms can vary widely among individuals with UCMD. Some individuals may experience a milder form of the condition, while others may have more severe symptoms that significantly impact their daily lives.