Ullrich congenital muscular dystrophy (UCMD) is a form of muscular dystrophy, the symptoms of which appear from birth. The condition mainly affects skeletal muscles and is caused by defects in genes that provide instructions to build collagen type 6. Collagen type 6 is a protein that is primarily found in muscle tissues and is important for muscle function.

Signs of UCMD

The first signs of UCMD can occur before birth and include decreased fetal movements during pregnancy. Most children show reduced movement at birth and have hypotonia (low muscle tone). These signs are usually noticed a few months after birth, when babies have a delay in achieving certain milestones, such as crawling or sitting unaided.

Most common symptoms

The most common symptoms of UCMD, occuring in 80% to 99% of patients, are:

  • Hyperlaxity (hypermobility) of the hands and feet
  • Abnormal palate morphology
  • Generalized muscle weakness
  • Kyphosis: a hunched or rounded back
  • Spinal rigidity or reduced spine movement

Some clinical signs are not visible but can be measured in a clinical setting. They include:

  • Elevated serum creatine kinase levels (a marker of muscle damage)
  • Abnormalities in muscle function that can be detected by electromyography
  • Increased connective tissue within the muscles
  • Increased variability in muscle fiber diameter

Less common symptoms

These symptoms occur in 30% to 79% of patients and include:

  • Torticollis: also known as wry neck, where the head or neck is abnormally bent to one side
  • Hip dislocations
  • Adducted (inwardly turned) thumb
  • Contractures (contracted muscles, tendons, or ligaments that restrict movements) in the knees and elbows
  • Abnormally long toes
  • Scoliosis (sideways curvature of the spine)
  • Respiratory failure
  • Abnormally short neck
  • Slender fingers
  • Pes plano valgus (flat feet)
  • Micrognathia (small lower jaw)
  • Generalized amyotrophy (muscle degeneration) and hypotonia
  • Esotropia (one or both eyes turned inward)
  • Frequent falls

There are other symptoms associated with UCMD but their prevalence is unknown. A complete list of known symptoms can be found in the Human Phenotype Ontology database.

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