Rare diseases, though individually uncommon, collectively affect millions and remain among the most underdiagnosed and poorly managed conditions in conventional healthcare. Ayurveda, with its systems approach and emphasis on Dosha imbalance, offers a complementary lens to interpret such unlisted conditions, known as Anukta Vyadhi. Human Phenotype Ontology (HPO) that catalogs 10,610 phenotypes across 12,678 rare diseases can be used to bridge modern phenotype vocabularies and Ayurvedic classifications. This study explores whether integrating the Anukta framework can enable meaningful assessment of rare diseases in Ayurveda clinical settings. A curated list of 140 Nanatmaja Vikara (NV)-Vata (80), Pitta (40), and Kapha (20) was mapped to HPO terms, preserving the semantic context of Ayurvedic descriptions. Noteworthy, 128 of NV phenotypes mapped to 199 HPO terms. Over 7200 rare diseases had representation of Nanatmaja Vikara. Vata-linked features were the most enriched (4786), followed by Pitta (465) and Kapha (240). 1349 of diseases showed dual Dosha involvement and 360 of all three. Seizures, short stature, and ptosis were most prevalent features of nV; gastroesophageal reflux, fever, and abnormal skin blistering of nP; and obesity, lethargy, and pallor of nK. Detailed case interpretation of Steinert Myotonic Dystrophy, Syndromic Diarrhea and Alstrom Syndrome revealed association with Vata-Kapha, Vata-Pitta, and Tridosha features respectively. This integration of Anukta framework with structured ontologies provides a practical pathway for understanding rare diseases for management in Ayurveda clinics and integrative decision-making when biomedical options are limited.

Low uptake of presymptomatic testing and medically assisted reproduction in families impacted by neurogenetic diseases prompted us to investigate how reproductive options are considered and whether there is a relationship with perceived severity of the disease. We hypothesised that self-estimated severity would influence opinion on reproductive options and that prenatal/preimplantation diagnosis would be a motivation to inform relatives about their risk. We invited people impacted by neurogenetic diseases to evaluate the severity of their familial disease using analogic visual scales and to answer questionnaires about reproductive choices and intrafamilial communication. We compared answers between diseases and with the perceived severity of each disease. We analysed 562 questionnaires. Participants were impacted by Huntington disease (n=307), spinocerebellar ataxias (n=114), Steinert myotonic dystrophy (n=82) and amyotrophic lateral sclerosis/frontotemporal dementia (n=59). Self-estimated severity differed between pathologies (p<0.0001). Overall, participants considered prenatal diagnosis (78.0±34.4 out of 100) and preimplantation diagnosis (75.2±36.1 out of 100) justified more than termination of pregnancy (68.6±38.5 out of 100). They were less in favour of gamete donation (48.3±39.8 out of 100) or pregnancy abstention (43.3±40.3 out of 100). The greater the perceived severity of the disease, the more reproductive options were considered justified, except for gamete donation. Prenatal/preimplantation diagnosis was a motivation to inform relatives for only 55.3% of participants (p=0.01). Self-estimated severity minimally impacts opinions towards reproductive options. Medically assisted reproduction procedures are rarely sought and do not motivate familial communication.

The aim of the study was to describe the characteristics of children with neuromuscular diseases treated with long term noninvasive ventilation or continuous positive airway pressure in France. On June 1st 2019, 387 patients (63% boys, mean age 11.2 ± 5.5 years) were treated with long term noninvasive ventilation/continuous positive airway pressure. Thirty three percent of patients had spinal muscular atrophy, 30% congenital myopathy/dystrophy, 20% Duchenne muscular dystrophy, 7% Steinert myotonic dystrophy, and 9% other neuromuscular diseases. Ninety-four percent of patients were treated with long term noninvasive ventilation and 6% with continuous positive airway pressure. Treatment was initiated electively for 85% of patients, mainly on an abnormal overnight gas exchange recording (38% of patients). Noninvasive ventilation/continuous positive airway pressure was initiated during a respiratory exacerbation in 15% of patients. Mean duration of noninvasive ventilation/continuous positive airway pressure was 3.3 ± 3.1 years. Mean objective long term noninvasive ventilation/continuous positive airway pressure use was 8.0 ± 3.1 h/24. Spinal muscular atrophy, congenital myopathy/dystrophy, and Duchenne muscular dystrophy represented 83% of children with neuromuscular diseases treated with long term noninvasive ventilation in France. Screening for nocturnal hypoventilation was satisfactory as noninvasive ventilation /continuous positive airway pressure was predominantly initiated electively.

We present the case of a 36-year old Curschmann-Steinert myotonic dystrophy patient with posterior subcapsular cataract that we treated with unilateral implantation of an extended depth of focus intraocular lens to address his wish for spectacle independence at far and intermediate distance. The patient underwent phacoemulsification with subsequent implantation of the AcrySof IQ Vivity IOL (Alcon, Fort Worth, TX, USA) in his left eye. Uncorrected distance visual acuity (UDVA) on the left eye increased from +0.40 logMAR preoperatively to -0.12 logMAR at 3 months postoperatively. At the three months follow-up distance corrected intermediate visual acuity (DCIVA) at 80 cm distance was -0.08 logMAR and DCIVA at 66 cm distance was 0.14 logMAR for the left eye. The defocus curve showed a functional defocus of 2.0 diopters at 0.2 logMAR or better, corresponding to the extended depth of focus. Dysphotopsia evaluation with a Halo & Glare simulator (Eyeland-Design Network GmbH, Vreden, Germany) revealed a very low level of photic phenomena. Unilateral implantation of a new generation, non-diffractive extended depth of focus IOL was well tolerated and provided good functional results for far and intermediate distances. The patient reported a very low level of photic phenomena.