Kugelberg-Welander disease

Kugelberg-Welander disease: Description, Causes and Risk Factors: Alternative Names: Spinal muscular atrophy type III (SMA type III) and juvenile spinal muscular atrophy, hereditary motor neuronopathy, progressive muscle atrophy. Kugelberg-Welander diseaseThe Kugelberg-Welander disease is an heterogeneous group of neuromuscular disorders with predominantly autosomal recessive inheritance. 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 SMA III, a genetic mutation causes a problem in the production of an important protein needed by nerves. Some of this key protein is made, but at a reduced level. This causes motor neuron cells in the spinal cord to die off. Recently, two candidate genes, namely SMN (survival motor neuron) and NAIP (neuronal apoptosis inhibitory protein), have been suggested as SMA-determining and SMA modifying genes, respectively. The SMN gene has been found to be homozygously absent or interrupted in 98.6% of childhood SMAs and in at least some patients with the adult form. The frequency of homozygous deletion of the intact NAIP gene was found to be different in SMA type I and type II/III (45% versus 18%), thus leading to the suggestion that the severity of the disease may depend on the deletion of the NAIP gene. Kugelberg-Welander disease is inherited as an autosomal recessive condition this means that two copies of the gene with the genetic mutation (inherited from both mother and father) are necessary for SMA to occur in a person. If a person only inherits one copy, they are a carrier and do not suffer symptoms but they can pass this defective gene onto their children - up to 1 in 40 people are carriers. Because the disorder is genetically recessive, for each pregnancy, if both parents carry the mutation, there is a 25% chance of a child inheriting two copies of the mutation and having SMA, a 25% chance they will be OK and a 50% chance of becoming a carrier. Symptoms: Common symptoms: Problems eating, swallowing and digesting food arecommon. Key Symptoms: In Kugelberg-Welander disease, weakness is symmetric and progressive, and there is noted weakness in leg, hip, shoulder, arm and sometimes respiratory muscles.
  • Patients with Kugelberg-Welander disease walk independently, but may fall frequently by age two or three due to proximal limb weakness.
  • Patients with Kugelberg-Welander disease who could never climb stairs without using a rail lose walking ability by the mid-teens.
Diagnosis: 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's why it's 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. Tests include: CPK levels.
  • Electromyography.
  • MRI of the spine.
  • 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. Treatment: There is currently no cure for 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. Attention must be paid to the respiratory system, because affected people have difficulty clearing secretions. Respiratory complications are common. Physiotherapy is very important. It is possible to build up an exercise routine that can be carried out at home regularly between visits to a clinic. Swimming is also a good way of getting gentle exercise. It is better if we opt for a Neuromuscular Centres where there are specially trained physiotherapists, Occupational Therapists, and other health care professionals. Research into SMA is currently being carried out in many countries. Disclaimer: 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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