The Hope Project (THP): Understanding Kugelberg-Welander Disease

Updated: Jan 8

Kugelberg-Welander disease results in progressive muscle atrophy of the limbs. It is genetic, and symptoms can begin in early childhood. It is extremely rare and has only been studied in terms of spinal muscle atrophy.


This article provides insight into the epidemiology, etiology, and treatment options for Kugelberg-Welander Disease.

What Is Kugelberg-Welander Disease?


Kugelberg-Welander disease, or K-W for short, is a type of spinal muscular atrophy (SMA) that causes weakness of the hip-girdle muscles. It is rare and inherited, also causing weakness in the arms and legs. Symptoms occur just after 12 months of age, but some will not show changes until their teenage years. According to the National Organization for Rare Disorders, there is not a specific estimate as to the prevalence of K-W syndrome, but about 8 in every 100,000 live births is estimated to have some variance of spinal muscular atrophy.


The different types are classified according to when symptoms begin in a patient. Type 1 includes the onset before the age of 6 months. Type 2 is ages 6-18 months, Type 3 is an age after 18 months (usually during late childhood or adolescence), and Type 4 is when symptoms occur in early adulthood.


What Causes Kugelberg-Welander Disease?


K-W is caused by a defect in the survival motor neuron (SMN) gene on chromosome 5. Because it is a genetic defect, it can be inherited, with equal risk for males and females. However, the gene is recessive, meaning there is a 25% chance that a child whose parents both carry the recessive K-W gene will be affected by it themselves.


What Are The Symptoms of Kulberg-Welander Disease?


People with K-W experience muscle weakness, and this can often leave many wheelchair-bound. Common complications include poor weight gain (due to growth failure), restrictive lung disease, and scoliosis, a sideways curvature of the spine.


According to smartmoves.org, early warning signs in children of an SMA include bell-shaped or rapid breathing, difficulty lifting arms and legs (referred to as no anti-gravity movement), a “frog-like” resting leg position, and other telling signs that an infant may be affected by spinal muscular atrophy.



What Is the Outlook for A Kulberg-Welander Patient?


K-W disease treatment is aimed at alleviating symptoms. This is usually achieved through physical therapy and other orthopedic services. In 2o17, Spinraza was FDA approved to treat adults and children with SMA.


Research is currently being done at several institutions worldwide into the different causes and future causes of SMA disorders, such as Kulberg-Welander. Scientists are working closely with gene therapy to see if, in the future, spinal muscular atrophy could be diagnosed earlier and provide clues in reversing it.


Conclusion


Kulberg-Welander Disease is a specific, yet rare, SMA disease. It is inherited through genetics, and men and women have an equal chance of being affected. Symptoms start early in life, and although there can be complications, the prognosis is generally good. Research is in progress to help with earlier detection of SMA diseases, and eventually lead to technology and nootropics that can help patients.


 

Unwired India is a neurotech-startup that aims at integrating state-of-the-art research and developments in STEM, for catalyzing the transition of Neuroscience to Neurotechnology. We develop avant-garde non-invasive neurostimulation products used to solve some of the world’s most critical global issues and challenges. Our mission is to take cutting-edge brain research directly into the lives and homes of people, thereby fostering a unique culture of sustainable neuroscience and scientific literacy in India.

  • Founded in 2020, we are the pioneers of Nootropics and non-invasive Neurotechnology devices in the country, and offer so much more than high-quality, delicious Brain Nutrition products for daily cognitive support; a full-service health and fitness startup that has become an important part of the local community, here in New Delhi, India.

  • We develop non-GMO, all-natural nootropic (smart-drug) formulations, Himalayan herb blends, and specialized amino-nutraceutical interventions and supplements for enhanced brain function, cognition, neuroinflammation, and neurodegeneration.

 

The Hope Project (THP) is a neuro-disorder awareness initiative within the organizational framework of Unwired India. The initiative aims at creating and scaling awareness against the stigma, fear, and apprehensions associated with Neurological disorders.


Aims: To promote and develop awareness across global masses and to emphasize the importance of early detection, in addition to fostering a healthy lifestyle- which is important in the management and treatment of these ailments.


WORK WITH US.

Register at http://www.unwiredindia.com/team/

 

A friendly reminder: We've done our research, but you should too! Check our sources against your own and always exercise sound judgment.



https://www.ncbi.nlm.nih.gov/gtr/conditions/C0152109/

https://rarediseases.org/rare-diseases/kugelberg-welander-syndrome/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459160/

https://smartmoves.curesma.org/know-the-warning-signs/

https://emedicine.medscape.com/article/306812-overview#a1

Image credit: https://unsplash.com by Steven HWG
 

About the Author


Davinia Ibizugbe


Project Intern for The Hope Project (Texas, USA)


Davinia Ibizugbe is a Nigerian writer. She has planned her education around the hopes of becoming a future Neurosurgeon. Her interest in neurology developed early in her life. Davina has a passion for learning about neurological diseases and methods to combat them.






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