International Journal of

Rare Diseases and DisordersISSN: 2643-4571

Current Issue

 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....

 Open Access DOI:10.23937/2643-4571/1710038

The Urofacial (Ochoa) Syndrome

N Hazzab, S Mrhar, H Nassih, A Bourrahouat and I Aitsab

Article Type: Case Report | First Published: November 12, 2021

The urofacial (Ochoa) syndrome is a rare autosomal recessive disease characterized by congenital obstructive uropathy and abnormal facial expression. We reported the case of a child aged six-years-old, the second child of consanguineous parents, the father reported that she has suffered from episodes of urinary tract infection, and enuresis. She was admitted in our department for an urinary tract infection. The clinical examination showed a characteristic, inverted, facial expression. The urea a...

 Open Access DOI:10.23937/2643-4571/1710037

Successful ICU Care in a MERRF Patient with Severe Covid-19

Scott Clanton II, Rajani Adiga, MS, Amy Christie, MD, FACS and Dennis Ashley, MD, FACS, FCCM

Article Type: Case Report | First Published: September 13, 2021

Mitochondrial myopathies are a spectrum of rare diseases caused by a genetic defect in ATP production at the level of the electron transport chain. The degree of disability is variable, but often patients are severely ill and highly susceptible to increased morbidity and mortality with infection. Covid-19 is known to be especially virulent in patients with significant comorbidities. In this case, a 27-year-old man with Myoclonus Epilepsy with Ragged Red Fibers (MERRF) presented in severe shock d...

 Open Access DOI:10.23937/2643-4571/1710036

Reducing Global Health Inequalities in People with Prader- Willi Syndrome: The Role of the International Prader-Willi Syndrome Organization

Anthony Holland and Marguerite Hughes

Article Type: Opinion Piece | First Published: September 10, 2021

The International Prader-Willi Syndrome Organization (IPWSO) is a global charity first established in 1991 to support the needs of children and adults with the genetically determined neurodevelopmental disorder, Prader-Willi Syndrome (PWS), together with their families and health and social care professionals working with them. PWS affects all races and both genders equally and is associated with a complex physical and behavioral phenotype that requires interdisciplinary lifelong health support,...

 Open Access DOI:10.23937/2643-4571/1710035

Falls and Associated Factors among Adolescents and Young Adults with Arthrogryposis Multiplex Congenita

Jaclyn Megan Sions, PhD, DPT, PT, Maureen Donohoe, DPT, PT, Emma Haldane Beisheim, DPT, PT, Tracy Michele Shank, MS, OTR/L, CHT and Louise Reid Nichols, MD

Article Type: Original Article | First Published: September 06, 2021

Falls research among individuals with arthrogryposis multiplex congenita (AMC), a group of congenital conditions characterized by joint contractures in two or more body regions, is sparse. The primary objectives of this study were to estimate the prevalence of single, multiple, and injurious falls among adolescents and adults with AMC and identify factors associated with multiple and injurious falls. Individuals, aged 10-50 years, with a diagnosis of AMC completed questionnaires obtaining demogr...

 Open Access DOI:10.23937/2643-4571/1710034

Incentives for Pharmaceutical Companies to Develop Treatments for Rare Diseases: A Review of the Literature

Syed Abedi, Jessica Chen, Sarala Joshi, Shefali Singh, Mustafa Sultan and Sifan Zheng

Article Type: Review Article | First Published: September 04, 2021

Numerous patients suffering from orphan diseases still lack a treatment. Pharmaceutical companies play a crucial role in the advancement of orphan drug development. This systematic literature review aims to identify and categorise current incentivising factors for pharmaceutical companies to develop orphan drugs. EMBASE and MEDLINE databases were systematically searched for terms related to orphan drug development incentives for pharmaceutical companies. Research findings were qualitatively eval...

 Open Access DOI:10.23937/2643-4571/1710033

A Case of Fibrodysplasia Ossificans Progressiva in Kenya

Aura Mwende, Athul Kooliyath, Pauline Samia, Kavulani Mutiso, Ravjit Sagoo, Patricia Okiro, Stanley Mugambi and Angela Migowa

Article Type: Case Report | First Published: September 03, 2021

Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare and disabling disorder that affects 1 in 2 million individuals worldwide. It is caused by mutations in bone morphogenetic protein which leads to extra-skeletal ossification of soft tissues in a characteristic cranio-caudal pattern. Hallux valgus, episodic flares and progressive functional disability are characteristic features. The cause of death is often cardio-respiratory failure following thoracic insufficiency. A two year 5-mon...

 Open Access DOI:10.23937/2643-4571/1710032

Mainstream Health Care for Adults with Intellectual Disability due to Rare Causes

Robyn A Wallace, BSc(Hons), DipEd, MSc, MBBS, FRACP, PhD, CF, FAFRM, Dip Pall Clin Care, G Dip Neuroscience, MD

Article Type: Brief Communication | First Published: July 29, 2021

At least half of adults with intellectual disability are estimated to have diagnosed or undiagnosed chromosomal or DNA mutations as the cause of their intellectual disability, which, by definition, are rare. Mostly however, associated physical health problems are not rare. An unintended consequence of focus on the rareness of the cause of the intellectual disability, no matter how useful that is to understanding the syndrome, is that it deflects attention away from the relatively common physical...

 Open Access DOI:10.23937/2643-4571/1710031

Comparison of Surrogate Parameters between CF-Patients in Frankfurt and Moscow (1990-2015)

Jean-Pascal Varescon, Christina Smaczny, Olaf Eickmeier, Gulja Babadjanova, Yulia Philippova, Stanislav Krasovskiy, Elena Amelina and Thomas Otto Friedrich Wagner

Article Type: Research Article | First Published: July 24, 2021

Previous studies have demonstrated that CF prognosis is dependent of three major parameters: FEV1, BMI and need of intravenous antibiotic therapy. The CF centres of Frankfurt, Germany, and Moscow, Russia, care for cystic fibrosis patients. We decided to investigate and compare both centers from 1990 to 2015. No comparable study has been published so far. German patient data was collected from the national cystic fibrosis database “Muko.web”. Missing values were extracted from the Hospital In...

Volume 4
Issue 2