Congenital Universal Muscular Hypoplasia of Krabbe

While there are no specific recommendations regarding care of people with congenital universal muscular hypoplasia of Krabbe, a consult with neurology may be beneficial. Physical therapy and occupational therapy may also be helpful.

The life expectancy for congenital universal muscular hypoplasia of Krabbe is unclear. Since this does not seem to be a progressive muscle disease, early death due to respiratory failure or heart failure may not be a concern like it is in some other inherited muscle diseases. It is likely assumed that life expectancy for this condition is that of the typical average life expectancy.

Congenital universal muscular hypoplasia of Krabbe (CUMH of Krabbe) is a rare genetic muscle disorder that affects all of a baby’s muscles at birth, but does not cause them to worsen as they get older. The word congenital means the condition is present from birth. Muscular hypoplasia means that the muscles did not fully develop. "Universal" in this condition means that all the muscles of the body are equally affected. It is important to mention that CUMH of Krabbe is a very different inherited condition than the severe brain and nerve condition called "Krabbe disease" also known as globoid cell leukodystrophy.

While there is evidence that congenital universal muscular hypoplasia of Krabbe is passed on in families in a specific pattern, a gene that causes the condition has not yet been identified.

Signs and symptoms of congenital universal muscular hypoplasia of Krabbe include:

Newborn testing/screening for congenital universal muscular hypoplasia of Krabbe is not available.

To find the most current research for congenital universal muscular hypoplasia of Krabbe the following resources may be helpful.

Unfortunately, no prenatal diagnosis for congenital universal muscular hypoplasia of Krabbe would not be possible since a causative gene has not been identified.

It has been known for a long time that congenital universal muscular hypoplasia of Krabbe is passed on in families. At first, it was thought to be inherited in an autosomal dominant manner. Autosomal dominant means that the condition can affect men and women equally and there are affected people in every generation. Some studies suggested that it is sporadic; meaning, that people are affected at random. More recently, it was determined that the most likely way congenital universal muscular hypoplasia of Krabbe is passed on in families is autosomal recessive inheritance. This means that the condition can affect men and women equally but there are typically only a few affected individuals in one generation of a family.

Although it seems odd that the unusual name "Krabbe" is part of the name of two genetic conditions, congenital universal muscular hypoplasia of Krabbe (CUMH of Krabbe) and Krabbe disease also known as globoid cell leukodystrophy are very different inherited disorders that happened to be first described by Dr Knud H. Krabbe. Dr. Krabbe was a Danish neurologist who in 1916 describe a group of patients with a serious disorder of nervous system that was eventually named "Krabbe disease" and then in 1947 published a scientific article about patients with weak, underformed muscle at birth (CUMH of Krabbe) and it was named after him as well. Same doctor, different conditions with very different health issues.

It can be difficult to talk to other people (family members, strangers) about your child’s diagnosis of congenital universal muscular hypoplasia of Krabbe. Ultimately, you are the parent and you know your child better than anyone else; so, it is up to you as to what information you give other people about your child’s condition. That said, here are some suggestions on how to talk to other people about congenital universal muscular hypoplasia of Krabbe.

It is important that other people understand that your child has a genetic condition. It is also important that other people know the name of the condition. Hopefully, when confronted directly, this will minimize any stigma or stereotypes individuals may have about people with disabilities. It may also be helpful to share any limitations that your child may have because of their condition. This could be helpful for when your child is in the care of someone else for a short period of time (ie. babysitters) or for when your child has a play date with friends. If you feel comfortable, it may also be helpful to inform your employer about your child’s condition in case you need to be taking time off work to attend doctor appointments.

It can be difficult to talk to your child about a diagnosis like congenital universal muscular hypoplasia of Krabbe. Ultimately, you are the parent and you know your child better than anyone else; so, it is up to you as to what information you give your child about their condition. That said, here are some suggestions on how to talk to your child about congenital universal muscular hypoplasia of Krabbe.

It is important that your child knows that they did not do anything wrong and that no one is to blame for your child to be born with this condition. It is also important for you child to know the name of their condition. This normalizes the condition with a goal that your child will not be afraid to talk to people about it if they ask questions.
You can tell your child that they can still go to school and have friends; however, because of the muscular hypoplasia, they may not be able to do a lot of activities or sports like their friends. You can also tell your child that they will have to see special doctors so that they can stay healthy. When they are ready to start their own families, even if there isn’t any genetic testing, it is still important that they understand that they may pass on this condition to their children.

The diagnosis of congenital universal muscular dystrophy of Krabbe is made based on the features and symptoms described in the "symptoms" section, as well as, by muscle biopsy. There is no available genetic testing for this condition at this time.

Congenital universal muscular hypoplasia is very rare. The number of affected people is unknown.

While there are no specific recommendations regarding care of people with congenital universal muscular hypoplasia of Krabbe, a consult with neurology may be beneficial. Physical therapy and occupational therapy may also be helpful.

Congenital muscular hypoplasia of Krabbe was first called "muscular infantilism." However, years later, the "first report" of the condition was determined to be a type of muscular dystrophy instead of a muscular hypoplasia. The condition that is now known as congenital universal muscular hypoplasia, a term coined by Krabbe in 1947 after he reported a case of a five-year-old Danish boy with the characteristic features. This is why it is sometimes referred to as "congenital universal muscular hypoplasia of Krabbe."

There are no support groups or patient advocacy groups specifically for people with congenital universal muscular hyopoplasia of Krabbe. However, participation in other musculo-skeletal groups may provide support.