FABRY

The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients

This is the first study to have described family screening in a large Russian cohort of patients with FD and chronic kidney disease.

FABRY

Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: A multidisciplinary Turkey perspective

This consensus statement aimed to identify areas of consensus on conceptual, clinical and therapeutic aspects of Fabry disease (FD) and to provide guidance to healthcare providers on best practice in the management of pediatric and adult patients with FD.

CTX

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century

This is the widest review of CTX (cerebrotendinous xanthomatosis) cases reported between the years 2000-2021. This study reports the largest cohort of Polish patients ever published, with the identification of two hot-spot mutations.

MPS

Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities

Following a consensus-based methodology, a multidisciplinary panel shared their experience on a possible clinical approach to the diagnosis of MPS Ia in children with short stature or stunted growth

CLN2

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

The guidelines in this study provide solid evidence-based and expert-agreed advice on the risks/benefits of disease-modifying treatments and medical procedures used for the management of patients with CLN2 disease and other neurodegenerative diseases.

FABRY

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

In this review, the problems faced in the family genetic screening of patients affected with rare genetic diseases are highlighted by an international group of experts of Fabry disease. These problems include related costs, low awareness of its importance, cultural and societal issues, educational levels of the population, national geography and infrastructure, and a lack of medical geneticists.

CLN2

MRI in CLN2 disease patients: Subtle features that support an early Diagnosis

The aim of this study is to highlight common magnetic resonance imaging (MRI) features seen in early CLN2 disease and raise disease awareness among clinicians. Any of the mentioned features on MRI in this article should raise clinical suspicion to test for CLN2 disease.

NADIR HASTALIKLAR

Rare diseases

POMPE

Multisystem late onset Pompe disease (LOPD): An update on clinical aspects

Although Pompe disease was once thought to be predominantly a muscle disorder, it is now obvious that there is involvement of multiple other organs. Great efforts have been made for clarifying the clinical aspects of Pompe disease, raising awareness of the challenges that LOPD patients face, and improving their quality of life.