Kugelberg-Welander disease is a type of spinal muscular atrophy (SMA) and is also known as juvenile SMA, Kugelberg-Welander syndrome, and SMA type 3. SMA is an inherited neuromuscular disorder that causes muscle weakness and degeneration over time.
Kugelberg-Welander disease is characterized by symptoms including hypotonia (muscle weakness) in legs and arms and difficulty walking, running, and using stairs. Hand tremors, deficient weight gain, and insufficient growth are also associated with the condition. Without proper care, people with SMA type 3 can develop lung disease, scoliosis, and joint contractures.
Kugelberg-Welander disease is one of five main types of SMA, which include SMA 0 through SMA 4. Symptoms for type 3 are less severe than those of types 0, 1, or 2. Kugelberg-Welander disease usually presents in early childhood and adolescence. The condition progresses more slowly than SMA type 1 or type 2, which have an earlier onset. People with type 3 SMA have a normal life expectancy.
Learn more about the various types of SMA.
Kugelberg-Welander disease was named after Eric Kugelberg and Lisa Welander, Swedish neurologists and mycologists who researched the brain and muscles. The disease was first described in a research paper in 1956. A neurologist named Gunnar Wohlfart also participated in the research, so the condition is sometimes called Wohlfart-Kugelberg-Welander disease.
Kugelberg and Welander discovered that the age of onset for SMA can determine different outcomes of the disease. Specifically, the earlier a person develops SMA, the worse their outcome, due to the muscle and nerve deterioration during earlier stages of development.
A new breakthrough occurred in 1995 with the discovery of the survival motor neuron gene (SMN1). The SMN1 gene helps motor neurons survive by encoding a particular protein. A mutation of this gene causes 95 percent of SMA cases. In 1999, researchers made a second important discovery, the SMN2 gene. The number of copies of this gene a person has can influence the severity of their SMA.
The discovery of the SMN1 and SMN2 genes led to genetic testing for SMA. Although terms for the disease like Kugelberg-Welander are still used, clinical designations for SMA are now structured by types, based on the age that symptoms of the disease first occur.
Read more about the causes of SMA.
The discovery of the SMN genes has opened up new avenues of research in the treatment of SMA. In December of 2016, Spinraza (nusinersen) became the first drug approved by the U.S. Food and Drug Administration (FDA) for treating SMA. Spinraza targets abnormalities in the SMN2 gene in order to stabilize the survival motor neuron protein.
Spinraza is administered via intrathecal injection into the spine through the lower back and requires ongoing doses in a clinical setting. Forty percent of people treated with the drug experience positive results, including slower progression of the disease and improved motor function and muscle strength.
New drugs for treating SMA continue to be developed and tested in clinical trials. In 2020, the FDA approved Evrysdi (risdiplam), which also targets the SMN2 gene. Evrysdi can be taken orally or through a feeding tube. It is the first SMA drug that can be administered at home.
Zolgensma (onasemnogene abeparvovec-xioi), approved by the FDA in 2019, is the first drug to target and replace the SMN1 gene. It is currently used only for some young children and infants under 2 years of age.
On mySMAteam, the social network for people with spinal muscular atrophy and their loved ones, members come together to ask questions, give advice, and share their stories with others who understand life with SMA.
Do you have any tips for people with type 3 SMA? Have you tried Spinraza or Evrysdi? Share your experience in the comments below, or start a conversation by posting on your Activities page.