What Is Ullrich Congenital Muscular Dystrophy?

Table of Contents
View All
Table of Contents

Ullrich congenital muscular dystrophy is a rare form of congenital muscular dystrophy that causes extreme muscle weakness. 

Congenital muscular dystrophies are inherited diseases that affect the body’s musculature and are typically present at birth or shortly thereafter. There are several types of muscular dystrophy that cause various symptoms, but they all share a common symptom of muscular weakness or muscle degeneration.

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

Child with muscular dystrophy talks to caregiver

FatCamera / Getty Images

Ullrich Congenital Muscular Dystrophy Symptoms

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

Children with Ullrich congenital muscular dystrophy may present with the following symptoms:

  • Muscle weakness
  • Overly flexible joints in the hands and feet
  • Difficulty straightening arms and legs
  • Stiffness in the elbows, knees, and hips
  • Low muscle tone or “floppy” muscles
  • Scoliosis (abnormal curvature) or stiffness of the spine
  • Limited fetal movement in the womb
  • Limited movement at birth
  • Poor head control in babies
  • Delay in reaching motor skill milestones like crawling

Other symptoms may include:

  • Torticollis (involuntary turning or twisting of the neck)
  • Round face with long, thin extremities
  • Respiratory problems, including frequent chest infections 
  • Problems with feeding and failure to thrive

People with Ullrich congenital muscular dystrophy may also have issues with skin healing.

Causes

Congenital muscular dystrophy is the result of genetic mutations. They can either be passed down from a parent or crop up spontaneously. In most cases, both parents must carry the gene to pass it on to their child. 

Ullrich congenital muscular dystrophy can be autosomal recessive or autosomal dominant. Autosomal means the gene is on a chromosome other than the X and Y chromosomes.

  • Autosomal recessive means both parents must carry the gene to pass it to the child.
  • Autosomal dominant means only one copy of a mutated gene is required to cause the condition. 

Most autosomal dominant cases of Ullrich congenital muscular dystrophy do not occur because one of the parents has the mutated gene. Instead, a spontaneous mutation occurs in the gene in the person who has the condition.

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

Rare Condition

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

Diagnosis

Healthcare providers typically diagnose Ullrich congenital muscular dystrophy at birth or not long after. In most cases, a healthcare provider will suspect a case of the condition because of the symptoms an infant or child is manifesting. 

To confirm a diagnosis, a healthcare provider will:

  • Perform a muscle biopsy (take a sample of the muscle to be analyzed in the lab)
  • Perform a skin biopsy to check for collagen VI present in the skin
  • Order blood tests to measure the muscle protein creatine kinase (CK)
  • Perform a muscle ultrasound test (uses sound waves to create images)
  • Order a muscle magnetic resonance imaging (MRI) scan (uses strong magnets to produce an image)
  • Genetic testing for the genes responsible for the condition

Treatment

There’s no cure for Ullrich congenital muscular dystrophy. Treatment mainly consists of symptom management and monitoring. Treatment strategies may involve:

  • Physical therapy to prevent or slow the development of severe joint stiffness 
  • The use of splints 
  • The use of a spinal brace for scoliosis
  • Surgery, in rare cases
  • Nutritional supplements or a feeding tube if feeding is difficult 

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

Prognosis

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

In a 2009 study of 13 children with the disease, eight went on to walk on their own, and nine required wheelchairs by the time they were around 11.

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

By the time they reach their teens, most people with Ullrich congenital muscular dystrophy need non-invasive ventilation while sleeping. This is because the condition can affect the muscles associated with breathing.

Summary

Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy. It causes severe muscle weakness that shows up shortly after birth. There’s no cure for Ullrich congenital muscular dystrophy or any other form of muscular dystrophy.

A Word From Verywell

Finding out your child has Ullrich congenital muscular difficulty can be overwhelming. It’s understandable to worry about your child’s future and what challenges they may face.

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

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

Was this page helpful?
7 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
  1. NYU Langone Health. Types of muscular dystrophy.

  2. Muscular Dystrophy UK. Symptoms.

  3. Johns Hopkins University OMIM. Ullrich congenital muscular dystrophy 1; UCMD1.

  4. Muscular Dystrophy UK. Causes.

  5. Muscular Dystrophy UK. Overview.

  6. Orphanet. Congenital muscular dystrophy, Ullrich type.

  7. Nadeau A, et al. Natural history of Ullrich congenital muscular dystrophy. Neurology. 2009:73(1)25-31. doi:10.1212/WNL.0b013e3181aae851