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Kugelberg-Welander Spinal Muscular Atrophy
Thursday, 11 March 2004
Thursday, 11 March 2004
Spinal Muscular Atrophy III

What

Kugelberg-Welander spinal muscular atrophy (SMA) is a rare inherited neurological disorder that causes a progressive destruction of parts of the spinal cord. When these cells are destroyed, the individual may experience muscle weakness, abnormally low muscle tone, and accelerating paralysis. Several forms of spinal muscular atrophy exist, which are categorized as types I-IV. Type I is seen the earliest in life, with types II-IV occurring progressively later in childhood and finally adult life. Type III spinal muscular atrophy is known as Kugelberg Welander syndrome.

Who

Kugelberg Welander affects all races and both males and females equally, although the disease is more severe in males. All forms of spinal muscular atrophy taken together have an incidence of 1 case for every 15,000-20,000 live births worldwide. Type I is known as infant onset spinal muscular atrophy (also called Werdnig-Hoffmann disease), which begins before 6 months of age. Type II begins between 6-18 months of age, and is called juvenile SMA. Type III, or Kugelberg Welander begins after 18 months of age, usually in late childhood or adolescence until around age 17. Type IV begins in early adult life, and is less severe than the earlier onset subtypes.

Signs and Symptoms

A person with Kugelberg-Welander may experience the following symptoms:

  • Worsening weakness of the arms and legs, often following a short period of illness such as the flu. The weakness steadily gets worse with time.
  • The legs are usually affected earlier and more severely than the arms.
  • The muscles that are affected first are the ones closest to the trunk. Muscles further away are secondarily affected (calf or forearm).
  • Clumsiness in walking and running.
  • A small tremor may be seen in the outstretched fingers, along with muscle cramps.
  • One third of patients with this syndrome may also experience both facial and jaw weakness.
  • Parents may report delayed developmental milestones or decreased athletic abilities in their children.

Possible Causes

Kugelberg-Welander spinal muscular atrophy is an autosomal recessive disease, which means that both parents carry one copy of the gene responsible for this disease. The parents each pass on one of their affected genes to their child, and so there is a 25% chance that any child they have will have the disease. There have also been reported cases of other types of familial spinal atrophies that are autosomal dominant (only one copy from a parent is needed to get the disease), and also a X-linked form (comes from the mother and is given to the son only). Parents have no control over which gene passes to their child.

Diagnosis

There are several tests that your doctor may perform to help determine if your child has Kugelberg-Welander syndrome. Sometimes, the doctor may find a higher than normal level of muscle enzymes in your child’s blood, but this is not definitive in that these results may be found in other conditions as well. Other studies that may be helpful include nerve conduction studies (NCS) and electromyography (EMG), which involve using electrodes to look for abnormal muscle and nerve responses. Finally, a muscle biopsy (small sampling of tissue that may be done with a needle) may be used to look for neurons that are destroyed and other evidence of spinal muscular atrophy. Finally, a blood DNA analysis can look for mutations in a gene called “Survival Motor Neuron”, as this mutation is found in 90-94% of patients. This is the single most accurate method to test for this disease.

Treatment

At this time, there is no cure for Kugelberg-Welander syndrome. Physical therapy is very important to help maintain joint mobility, and to prevent leg and arm stiffness by stretching. Occupational therapy can help find ways for your child to alter the activities in school and at home. The goal is to avoid fatigue that can reduce fine motor skills needed for writing or buttoning clothes. In cases where the muscle weakness advances, children may need a walker or wheelchair to help them maintain their mobility. Children who have lateral curving of the spine (scoliosis) may need surgery or bracing to help straighten the spine.

Prognosis

Children with Kugelberg Welander syndrome often live into adulthood. Although the life expectancy of individuals with this less severe form of spinal atrophy is close to normal, the advancing nature and progressive weakness of the muscles may occasionally result in death in some people. Abnormal lateral curving of the spine (scoliosis) and joint problems commonly affect the activity of people as they age. As this disease progresses, most people require a wheelchair after age 40. As mentioned previously, the potentially deadly progression of Kugelberg Welander syndrome is best minimized by the combination of spinal surgery and physical therapy.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Families of Spinal Muscular Atrophy
A comprehensive information and resource center, which provides contact information to local chapters throughout the country, clinical studies and trials that are currently being pursued, a kid’s corner with message board and “web links” for children.

E-medicine Instant Access to the Minds of Medicine
Search for “Kugelberg Welander Spinal Muscular Atrophy” A detailed resource of medical information for families seeking an in-depth description of their child’s syndrome. Includes description of illness, symptoms, diagnosis and treatment, and prognosis.

Yale New Haven Health Library
This website provides only a brief description of this syndrome, but has links to other resources and associations that may be important for families needing additional information.

Google Search for Kugelberg-Welander Spinal Muscular Atrophy

References and Sources

www.fsma.org www.emedicine.com www.yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hwid=nord536