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Mounier–Kuhn syndrome (MKS) is characterized by tracheobronchomegaly with thinning or atrophy of the elastic tissue. Due to low clinical awareness, MKS is frequently overlooked on chest CT examinations, leadin...
Perioperative nursing care for patients with neuromuscular disorders, especially spinal muscular atrophy (SMA), remains a challenge. There is an obvious lack of guidelines.
Dissecting cellulitis of the scalp (DCS) is a type of neutrophilic scarring alopecia identified by the development of folliculitis with clusters of perifollicular pustules and then progresses to abscesses and ...
Endocrine dysfunctions are commonly associated with mitochondrial diseases. This study aimed to investigate clinical characteristics and outcomes of endocrine manifestations in patients with mitochondrial dise...
Although the genetic background of Dravet syndrome (DS) has been determined and is clearly described, and genetics tests that support a clinical diagnosis are available, DS diagnosis is often based on the clin...
Due to the craniofacial anatomy of people with achondroplasia, sleep-disordered breathing (SDB) occurs more frequently than in the average stature population. SDB, which comprises obstructive sleep apnoea (OSA...
Individuals with Rett syndrome (RTT) are at high risk for aspiration and also experience high rates of lower respiratory tract infections (LRTI) and respiratory failure (RF).
Genomic newborn screening (gNBS) offers the potential to detect genetic conditions early, enhancing outcomes through timely treatment. It can serve as an additional tool to identify conditions that are not det...
The traditional process of intercultural adaptation, while suitable for one or a few target languages, is not optimal for developing instruments for rare connective tissue diseases (CTDs) in multiple languages...
The activity of SLC6A4 is influenced by its polymorphisms, including the length variation in serotonin transporter linked promoter region (5-HTTLPR), a single nucleotide polymorphism (rs25531), and variable numbe...
Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder causing excessive oxalate production, damaging kidneys and other organs. Nedosiran, launched in the U.S. for individuals with PH1 (≥ 9 years of age...
Progressive familial intrahepatic cholestasis (PFIC) associated with myosin 5B deficiency is a rare liver disease characterised by elevated serum bile acids (sBAs) and severe pruritus. The objective of this st...
Hermansky-Pudlak Syndrome (HPS) type 1 (HPS-1) is an autosomal recessive disorder characterized by oculocutaneous albinism, platelet dysfunction, and pulmonary fibrosis (HPS-PF), the leading cause of mortality...
Posterior urethral valves (PUV) are congenital anomalies characterized by the persistence of mucosal folds in the urethra, leading to various degrees of obstruction. They are the most common cause of lower uri...
X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy with multisystem involvement, which often includes the need for invasive ventilator support, gastrostomy tube feeding, and w...
Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, are a group of inherited neurodegenerative disorders that mostly arise in childhood. Each of the NCLs is a genetically distinct disease caus...
Patients with rare diseases often undergo a long diagnostic odyssey. However, there is little empirical evidence on the cost incurred during the diagnostic pathway for patients with suspected rare diseases. Th...
Neuromuscular diseases (NMDs) comprise a range of genetic and acquired rare disorders that affect motor neurons, peripheral nerves, neuromuscular junctions and skeletal muscles, leading to significant impairme...
Childhood neurometabolic disorders encompass a range of heterogeneous conditions often presenting with atypical or overlapping symptoms, making accurate diagnosis challenging, time-consuming, and costly. Whole...
Leber hereditary optic neuropathy (LHON) is a rare, maternally inherited, mitochondrial disease resulting in sudden, progressive central vision loss. The condition affects numerous aspects of daily life, funct...
Birt-Hogg-Dubé (BHD) syndrome is associated with an increased risk of pneumothorax. This study aimed to determine the prevalence of spontaneous pneumothorax among individuals diagnosed with BHD syndrome.
Alpha-mannosidosis is a rare recessive lysosomal storage disorder with progressive multi-systemic impacts. In the absence of standardized monitoring protocols, there is insufficient understanding of disease pr...
Pompe disease is caused by pathogenic variants in the GAA gene, resulting in lysosomal acid α-glucosidase (GAA) deficiency. The prevalence of Pompe disease is not well-defined, and estimates vary by geographic re...
Onasemnogene abeparvovec (OA) is an adeno-associated virus vector-based gene therapy indicated for the treatment of paediatric patients with spinal muscular atrophy(SMA) with biallelic mutations in the surviva...
The lack of essential information when reporting animal studies causing lower reproducibility has been stressed for decades. The ARRIVE (Animal Research: Reporting of In Vivo Experiments) guidelines were first...
This study aimed to characterize the clinical and neuroimaging features of hereditary leptomeningeal transthyretin amyloidosis (hATTR-LA), a dominant inheritance disorder caused by a heterozygous TTR gene mutatio...
This study aimed to describe overall survival (OS) of patients with APDS relative to the global population as well as among subsets of patients with concurrent lymphoma or hematopoietic stem cell transplant (H...
This systematic review of randomized controlled trials (RCT) was conducted to evaluate the efficacy of enzyme replacement therapy (ERT) for patients with mucopolysaccharidosis (MPS). We systematically searched...
Variant transthyretin amyloidosis (A-ATTRv) can lead to sensory, motor, and autonomic neuropathy, as well as a variety of gastrointestinal (GI) disorders. While previous studies have explored gastrointestinal ...
The creatinine to cystatin C ratio (CCR) can be used as a biomarker of muscle mass and strength, but no studies have evaluated whether it can be used as a biomarker to monitor the efficacy of treatment with nu...
Autoimmune enteropathy (AIE) constitutes a diverse array of disorders characterized by immune dysregulation and gastrointestinal manifestations, chiefly chronic diarrhea. Due to the small number of reported co...
PMM2-CDG (phosphomannomutase 2-deficiency) is the most prevalent N-glycosylation disorder and results from impairments of PMM2 activity. This disease presents a large variety of pathogenic variants, which caus...
Fabry disease (FD) is a rare multi-systemic lysosomal storage disease that affects the heart and kidneys most significantly. An underappreciated manifestation of FD is reduced bone mineral density. Currently, ...
The high variety of mutations found in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene is responsible for the clinical heterogeneity observed in people with Cystic Fibrosis (CF) and the atypical manifesta...
Developmental and epileptic encephalopathy with spike wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike wave activation in sleep (EE-SWAS) are rare but well-known childhood epileptic ...
This study aimed to investigate clinical features and risk factors for the development of thrombotic thrombocytopenic purpura (TTP) in systemic lupus erythematosus (SLE) patients.
Our study aimed to report the clinical features and epidemiological characteristics of hereditary transthyretin amyloidosis-polyneuropathy(ATTRv-PN) with TTR Ala97Ser(p.Ala117Ser) mutation from South Mainland Chi...
Data on clinical manifestations of neurofibromatosis-Noonan syndrome (NF-NS) remain heterogeneous, with limited validated descriptions.
Improved awareness of hemophagocytic lymphohistiocytosis (HLH) among clinicians has led to an increase in its diagnosis. Often diagnosis is made based on the HLH- 2004 criteria. While these criteria have consi...
Barth syndrome (BTHS) is a rare, X-linked disorder that stems from mutations in the TAFAZZIN (TAZ) gene with varying disease severity among patients. The Barth Syndrome Symptom Assessment (BTHS-SA) is a patient-r...
Mucopolysaccharidosis (MPS) type VII is a storage disorder of autosomal recessive origin that is caused by a deficiency in a lysosomal enzyme that results in the accumulation of glycosaminoglycans and causes s...
Recent findings indicate that infants with spinal muscular atrophy (SMA) treated early through newborn screening (NBS) have better outcomes. This study aimed to investigate the long-term outcomes of a 5-year S...
Intracranial aneurysms (IAs) and abdominal aortic aneurysms (AAAs) are both vascular diseases that are closely linked. However, the pathogenesis underlying the co-occurrence of IAs and AAAs remains poorly unde...
Chanarin-Dorfman syndrome (CDS) is a multisystemic autosomal recessive rare disorder. CDS is caused by variants in the abhydrolase domain containing 5 (ABHD5) encoding gene (CGI-58), which ultimately leads to exc...
This article is part of a Supplement: Volume 20 Supplement 1
Nusinersen therapy for spinal muscular atrophy (SMA) provides significant functional improvement when initiated pre-symptomatically or early in life. However, challenges remain in diverse populations with long...
The socioeconomic impact of rare diseases has been mostly studied at the macrolevel, but evidence at the microlevel is lacking, which overshadows health-related social inequalities affecting people with rare d...
Dyskeratosis congenita (DC) is a rare and fatal disease, presenting with a classic triad of skin pigmentation, nail dystrophy and oral leukoplakia. However, diagnosing DC is challenging based solely on the pro...
This study aims to investigate the clinical characteristics, imaging features, treatment, and prognostic factors of jaw Langerhans cell histiocytosis (JLCH), providing valuable insights for its clinical diagno...
Glanzmann thrombasthenia (GT) is a rare inherited bleeding disorder caused by dysfunction of the integrin αIIbβ3 in platelets. The subunit β3, encoded by ITGB3 also plays a significant role in bone metabolism. Wh...
Orphanet Journal of Rare Diseases