Ullrich

Ullrich congenital muscular dystrophy (UCMD) is a rare congenital form of muscular dystrophy characterized by muscle weakness, joint stiffness, and multiple contractures. It is named after Otto Ullrich, a German pediatrician who first described the condition in 1930.

Symptoms and Signs

UCMD is characterized by muscle weakness that is present at birth or develops in early infancy. Affected individuals typically have multiple contractures, which are permanent shortening of muscles or tendons that result in joint deformities. These contractures most commonly affect the elbows, knees, and ankles. Other signs and symptoms of UCMD can include a rounded back (kyphosis), protruding shoulder blades (scapular winging), and a side-to-side curvature of the spine (scoliosis).

Causes

UCMD is caused by mutations in the COL6A1, COL6A2, or COL6A3 gene. These genes provide instructions for making proteins that are used to assemble larger protein complexes called type VI collagen. Type VI collagen is found in the extracellular matrix, which is the lattice-like network that provides structure and support to cells. Mutations in any of these genes disrupt the assembly of type VI collagen, which weakens connective tissues and leads to the signs and symptoms of UCMD.

Diagnosis

The diagnosis of UCMD is based on the clinical presentation, family history, and genetic testing. Muscle biopsy may also be performed to confirm the diagnosis.

Treatment

There is currently no cure for UCMD. Treatment is supportive and aims to improve quality of life and slow disease progression. Physical therapy, occupational therapy, and orthopedic interventions may be beneficial.

See also

• Muscular dystrophy
• Congenital muscular dystrophy
• COL6A1
• COL6A2
• COL6A3

References

Ullrich Resources
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