Rare Disease 360?

Physiotherapy, especially multi-aspect programs that include muscle strengthening, coordination training, gait training, and daily living activity (ADL) training, can help reduce symptoms of degenerative cerebellar ataxia (DCA), according to a study. Read more: https://lnkd.in/eRSWpryW #MovementDisorders #Physiotherapy #CerebellarAtaxia

Exciting events are ahead for the Stickler community. Connect with others through our upcoming educational & social gatherings for individuals with Stickler syndrome & their support networks. Learn more: https://ow.ly/iCNZ50VjCUk #Stickler #SticklerSyndrome

The timing of growth hormone (GH) injections—whether in the morning or evening—does not affect children’s sleep quality or activity levels, according to a study that concluded that GH therapy can be administered at a time that best suits the family’s routine without compromising treatment effectiveness. Read more: https://lnkd.in/gYwSeJji #GrowthHormoneDeficiency #GHD #HormoneInjection

Deep brain stimulation (DBS) is a feasible and well-tolerated treatment for dystonia in patients with glutaric aciduria type 1 (GA1), but it does not lead to significant improvements in motor function, according to a study. Read more: https://lnkd.in/eCYFqfZ9 #MovementDisorders #Dystonia #MotorSkills

The Spanish Society of Otolaryngology and Head & Neck Surgery (SEORL-CCC) protocol, which assesses post-thyroidectomy hypoparathyroidism based on an ≥80% drop in parathyroid hormone (PTH) levels, is more diagnostically accurate than the American Thyroid Association’s (ATA) method of using a fixed postoperative intact PTH threshold (<15 pg/mL), according to a study. Read more: https://ow.ly/LRJF50VcZ60 #Hypoparathyroidism #Thyroid #ThyroidProblems

A recent study highlighted the potential benefits of the Adhera Caring Digital Program (ACDP), a mobile health (mHealth) solution designed to support caregivers of children undergoing growth hormone therapy. Read more: https://ow.ly/LfK550VcXOg #GrowthHormoneDeficiency #GHD #GrowthHormone

? NEW: FDA approves first treatment for MacTel. Read more ?? https://lnkd.in/eD6_3bYr Neurotech Pharmaceuticals, Inc.

Autofluorescence technology in thyroidectomy can help prevent hypoparathyroidism but its cost-effectiveness depends on the chronic hypoparathyroidism rate, according to a study. It becomes economically viable when the chronic hypoparathyroidism rate is at least 5%. Read more: https://ow.ly/ATXj50VcVHc #Hypoparathyroidism #Thyroidectomy #Thyroid

???? Hero Spotlight: Anne Mok, an advocate, TEDx speaker, and a dedicated champion for the visually impaired and chronic illness communities. Anne shares her journey of navigating life with Cone-Rod Dystrophy and New Daily Persistent Headache (NDPH) and how she has used her experiences to create a more inclusive world. Learn more about Anne's story: https://lnkd.in/eAPzwpAX #myhero360 #awareness #coneroddystrophy #visuallyimpaired #chronicillness

2025 Cholestatic Liver Disease Summit Accepting Abstract Submissions for short talks and flash talks! Abstract submission provides the opportunity to be selected for presentation of a 10 minute short talk or a 3 minute flash talk. A total of 8 short talks will be selected for presentation within the topic sessions of the Scientific Meeting on June 26, 2025. A total of 10 flash talks will be selected to generate a stand alone flash talk session at the Scientific Meeting on June 26, 2025. To help alleviate costs and encourage participation, travel awards will be given to the short talk and flash talk selected presenters. Please note, there will be additional opportunities to discuss your research at the disease specific Scientific Roundtables (ALGS, BA, PFIC, and PSC) on June 27, 2025. Deadline for abstract submission: 10am EST on Wednesday April 2, 2025 Submit here or click to visit the event website: https://lnkd.in/gGdZEhMP