Ulrich’s congenital muscular dystrophy: an overview and more

Ulrich’s congenital muscular dystrophy It is a rare form of congenital muscular dystrophy Which causes severe muscle weakness.

Congenital muscular dystrophies are genetic diseases that affect the muscles of the body and are usually present at birth or shortly thereafter. There are several types of muscular dystrophy that cause different symptoms, but they all share a common symptom of muscle weakness or degeneration.

This article discusses the symptoms, causes, diagnosis, treatment, and prognosis of this particular type of muscular dystrophy.

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Symptoms of Ulrich’s congenital muscular dystrophy

In almost all cases of congenital muscular dystrophy, there will be muscle symptoms.

Children with Ulrich’s congenital muscular dystrophy may have the following symptoms:

  • muscle weakness
  • Highly flexible joints in the hands and feet
  • Difficulty straightening arms and legs
  • Stiffness in the elbows, knees, and hips
  • Low muscle tone or “loose” muscles
  • scoliosis (abnormal curvature) or stiffness in the spine
  • Limited movement of the fetus in the womb
  • Limited mobility at birth
  • Poor head control in children
  • Delayed reaching motor skill milestones such as crawling

Other symptoms may include:

  • torticollis (twisting or involuntary twisting of the neck)
  • Round face with long and thin edges
  • Respiratory problems, including frequent chest infections
  • Nutritional problems and growth failure

People with Ulrich’s congenital muscular dystrophy may also have problems with skin healing.

the reasons

Congenital muscular dystrophy is caused by genetic mutations. It can be transmitted from a parent or arise spontaneously. In most cases, both parents must carry the gene to pass it on to their child.

Ulrich’s congenital muscular dystrophy can be hereditary or autosomal recessive. autosomal It means that the gene is located on a chromosome other than the X and Y chromosomes.

  • An autosomal recessive trait means that both parents must carry the gene to pass it on to the child.
  • An autosomal dominant trait means that only one copy of the mutated gene is needed to cause the condition.

Most cases of congenital Ulrich’s body dominant muscular dystrophy do not occur because one parent has a mutated gene. Instead, a spontaneous mutation occurs in the gene in a person with this condition.

Ulrich’s congenital muscular dystrophy is known as collagenopathy because it is caused by defects in the collagen VI genes, specifically COL6A1, COL6A2, and COL6A3. Mutations in these genes can lead to muscle problems.

a rare disease

Ulrich’s congenital muscular dystrophy is extremely rare. Only 50 cases have been confirmed by testing worldwide.

diagnose

Health care providers usually diagnose Ulrich’s congenital muscular dystrophy at birth or shortly thereafter. In most cases, the health care provider will suspect a condition because of the symptoms the infant or child is showing.

To confirm the diagnosis, the health care provider will:

  • carry out a muscle biopsy (Taking a sample of muscle for analysis in the laboratory)
  • Do a skin biopsy to check the presence of collagen VI in the skin
  • Order blood tests to measure the muscle protein creatine kinase (CK)
  • Perform an ultrasound of the muscles (using sound waves to create images)
  • Ask for a muscle Magnetic resonance imaging (MRI) Scanning (uses powerful magnets to produce an image)
  • genetic testing About the genes responsible for the condition

treatment or treatment

There is no cure for congenital Ulrich’s muscular dystrophy. Treatment mainly consists of managing and monitoring symptoms. Treatment strategies may include:

  • Physical therapy to prevent or slow the progression of severe joint stiffness
  • use of splints
  • Use of a spinal brace for scoliosis
  • Surgery in rare cases
  • food supplement or a feeding tube If breastfeeding is difficult

Because limited lung function can cause frequent chest infections, some people with this condition may benefit from seeing a Respiratory specialist.

prognosis

While Ulrich’s congenital muscular dystrophy can severely affect a person’s life, some people may retain the ability to walk well into adulthood. However, for some, the disease can severely limit movement. Some may be able to walk at first and lose the ability as they get older.

In a 2009 study of 13 children with the disease, eight of them went for walks on their own, and nine needed wheelchairs by the time they reached the age of eleven.

While it is possible for people with congenital Ulrich muscular dystrophy to live into their 30s, 40s, and 50s, the disease increases the risk of respiratory failure.

By the time they reach adolescence, most people with congenital Ulrich muscular dystrophy require non-surgical ventilation during sleep. This is because the condition can affect the muscles associated with breathing.

Summary

Congenital Ullrich muscular dystrophy is a form of congenital muscular dystrophy. It causes severe muscle weakness that appears soon after birth. There is no cure for congenital Ulrich’s muscular dystrophy or any other form of muscular dystrophy.

Word from Verywell

Finding out that your child has a congenital Ulrich muscle dysplasia can be confusing. It is understandable to worry about your child’s future and the challenges he may face.

By working with your child’s health care provider, you can find a way to manage symptoms.

Know that research into medications and treatments for muscular dystrophy is currently ongoing.