Wohlfart-Kugelberg-Welander disease

Wohlfart-Kugelberg-Welander disease

Description, Causes and Risk Factors:

Alternative Name: Spinal muscular atrophy, type III (SMA3 or SMA III), muscular atrophy, juvenile, Kugelberg-Welander disease.

Wohlfart-Kugelberg-Welander disease is a rare inherited neurological disorder that causes a progressive destruction of parts of the spinal cord. This disease affects all races and both males and females equally, although the disease is more severe in males. The age of onset is after 18 months. It affects about 1 in 6000 to 10,000 births. The disorder progresses slowly, with the ability to walk usually lasting until into adolescence. A wheelchair is often required later in life. It is often referred to as "floppy baby syndrome."

Wohlfart-Kugelberg-Welander disease

In Wohlfart-Kugelberg-Welander disease, a genetic mutation in SMN (survival motor neuron) and NAIP (neuronal apoptosis inhibitory protein) causes a problem in the production of an important protein needed by nerves. This causes motor neuron cells in the spinal cord to die off.

The disease is inherited as an autosomal recessive condition.


Common symptoms:

    Little spontaneous movement.

  • Lack of head control.

  • Problems eating, swallowing and digesting food are common.

  • Breathing difficulty.

  • Progressive weakness.

Key Symptoms:

In Wohlfart-Kugelberg-Welander disease, weakness is symmetric and progressive, and there is noted weakness in leg, hip, shoulder, arm and sometimes respiratory muscles. Patients with Wohlfart-Kugelberg-Welander disease can able to walk independently, but may fall frequently by age two or three due to proximal limb weakness.


An experienced physician makes a diagnosis by carefully evaluating the patient's medical history and by performing a thorough physical examination.

The spinal muscular atrophies are genetic disorders - inherited diseases that can be passed down from one generation to the next. That is why it is important for the doctor to know if there is a family history of these disorders. The clinical diagnosis is then confirmed by a series of laboratory tests, CPK levels, electromyography, MRI of the spine, and muscle biopsy.

DNA testing to confirm diagnosis: Genetic tests using blood samples can be done to identify carriers of SMA as well as someone with the disease.


Currently there is known cure for Wohlfart-Kugelberg-Welander disease, proper management of the condition is very important. Particularly for children who are still growing, so that any potential problems can be picked up promptly and any necessary treatment put into practice. Most of the cases are treated with preventative rehabilitation and symptomatic control. It is imperative to maintain the joint mobility of the patient. The patients suffering from Wohlfart-Kugelberg-Welander disease need to undergo stretching exercises and strength training under the guidance of a physical therapist. Occupational therapy can help find ways for your child to alter the activities in school and at home. Another viable alternative to improve mobility is aquatic therapy.

Disclaimer:The above information is general information (informational purpose only, sometimes may not be accurate). The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


Submit a Comment

Your email address will not be published. Required fields are marked *

Cart Preview

Top 7 Natural Remedies to Promote Regular Bowel Movements

Top 7 Natural Remedies to Promote Regular Bowel Movements

Sometimes it is difficult to have a bowel movement. Bowel movements range is different for everyone. However, movements from three times per week up to three times per day are considered as healthy. There are some natural methods that can help a person poop. Below,...

Quiz about this article

Please answer on few questions to make our service more useful

Featured Products

8 Reasons to Start Riding a Bike

Spring is not far off and very soon you will see many people riding a bike. It's worth to join them and now we will give you the 8 reasons why. Weight control Scientists of the University of Surrey (England) found that it's enough riding a bike for an hour, and, not...

read more

Simple Ways to Keep Fit Without Going to the Gym

We all want to get in shape and keep fit. But not everyone has time for visiting the gym. Give up the elevator. Give up lifts and climb the stairs. At work, at home, at the mall. This simple advice is a great benefit if you follow it daily. Climbing the stairs...

read more