International Journal of

Rare Diseases and DisordersISSN: 2643-4571


 Open Access DOI:10.23937/2643-4571/1710056

Interventions in Mowat Wilson Syndrome: A Scoping Review

Dolik-Michno Monika, Johnels Linn, Starbrink Magnus, Wandin Helena and Svedberg Lena

Article Type: Scoping Review | First Published: 2023/09/16

Mowat-Wilson syndrome (MWS) is a rare autosomal dominant condition caused by a heterozygous mutation or deletion of the ZEB2 gene. The syndrome occurs in both sexes but is potentially more frequently diagnosed in males. The number of new cases is estimated to be 1 in 50,000-70,000 born children. MWS is characterised by a distinctive facial appearance in association with intellectual disability (ID) and a range of other features including epilepsy, and Hirschsprung disease....

 Open Access DOI:10.23937/2643-4571/1710055

Collagenous Sprue, a Rare Intestinal Pathology with Dismal Outcome

Nan Fang Wang and Nam Gu Kang

Article Type: Case Report | First Published: 2023/07/20

Collagenous sprue, a rare and poorly understood disease of the small bowel is characterized by progressive weight loss, chronic diarrhoea and malabsorption. Due to its rarity, it is often misdiagnosed as celiac disease as it presents in similar manner. However, collagenous sprue unlike celiac disease is often refractory to gluten free diet and has poor prognosis. The key distinction between collagenous sprue and celiac disease lies in the biopsy of the small bowel where collagenous sprue shows p...

 Open Access DOI:10.23937/2643-4571/1710054

Morbidity Risk across the Lifespan for Adults with Spinal Muscular Atrophy: A Retrospective Cohort Study

Daniel G Whitney, PhD, Erin E Neil Knierbein, DO and Alecia K Daunter, MD

Article Type: Research Article | First Published: 2023/07/12

Recently approved treatments for spinal muscular atrophy (SMA) may shift clinical care priorities to secondary complications associated with SMA-related aging. To date, there is little knowledge about the natural history of morbidities across the adult lifespan for SMA. The objective of this study was to identify the risk of various morbidities among adults with vs. without SMA prior to SMA-related treatment....

 Open Access DOI:10.23937/2643-4571/1710053

Impact of Raising Children with Rare Diseases on Parental Quality of Life and Family Functioning

Yoonjeong Lim, PhD

Article Type: Original Research | First Published: 2023/06/25

Forty parents of children with Barth Syndrome (BTHS) or congenital muscular dystrophy (CMD) and forty parents of age-matched unaffected children participated in this study. Both groups of parents completed questionnaires providing information on their child’s functional ability, family cohesion, parental quality of life, and family functioning....

 Open Access DOI:10.23937/2643-4571/1710050

Buerger’s Disease (Thromboangiitis Obliterans) among Smokers: A Literature Review

Ichlasul Mahdi Fardhani

Article Type: Literature Review | First Published: 2023/04/28

Buerger's disease or thromboangiitis obliterans [TAO] is a progressive inflammatory disease that is non atherosclerotic and segmental. Small and medium arteries in the upper and lower extremities are most commonly affected. Despite the etiology and pathophysiology of TAO being still unclear, smoking plays a vital role in the emergence and development of the disease....

Volume 6
Issue 1