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."
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.
Lack of head control.
Problems eating, swallowing and digesting food are common.
Little spontaneous movement.
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.
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