OrphaChat — a Rare Disease Podcast

Robin Hendel, MD
  • 0.0 (0)
  • MEDICINE

Rare disease topics discussed by two virtual hosts. This is not medical advice and may contain mistakes, hallucinations and awkward pronunciation. Content is provided as is. This project and does not represent professional or institutional opinions. Feedback is welcome.

  1. FEB 4

    Antisynthetase syndrome

    Antisynthetase syndrome is a rare autoimmune disorder identified by anti-ARS antibodies. Key features include interstitial lung disease (ILD), myositis, arthritis, and "mechanic’s hands". Treatment involves glucocorticoids and immunosuppressants like rituximab or MMF.

    18 min

  2. FEB 4

    Multiple System Atrophy (MSA)

    Multiple System Atrophy (MSA) is a rare, fatal neurodegenerative disorder causing autonomic failure and motor impairment. Characterised by alpha-synuclein build-up and iron dysregulation, it lacks a cure. Current research focuses on disease-modifying treatments like ATH434.

    16 min

  3. FEB 4

    Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)

    CIDP is a rare autoimmune disorder causing nerve demyelination. Diagnosis involves electrodiagnostic tests and I-RODS assessments. Treatments like IVIG, SCIG, and steroids manage relapses. New therapies like nipocalimab and riliprubart are currently in clinical trials.

    14 min

  4. FEB 4

    Worster-Drought Syndrome

    Worster-Drought Syndrome is a form of cerebral palsy caused by perisylvian brain abnormalities. It features pseudobulbar palsy, impairing speech and swallowing. Managed via multidisciplinary care, treatments include LSVT LOUD and AAC to support communication.

    16 min

  5. FEB 4

    Smith-Lemli-Opitz syndrome

    Smith-Lemli-Opitz syndrome is a rare genetic disorder caused by DHCR7 mutations, leading to cholesterol deficiency and toxic oxysterol accumulation. It results in developmental delays and physical malformations. Management involves cholesterol supplementation and therapy.

    17 min

  6. FEB 4

    Kallmann Syndrome / Congenital Hypogonadotropic Hypogonadism

    Kallmann Syndrome and Congenital Hypogonadotropic Hypogonadism result from GnRH deficiency, causing infertility and delayed puberty. Genetic oligogenicity complicates diagnosis. Management focuses on hormone replacement and gonadotropin therapy to restore reproductive health.

    22 min

  7. FEB 4

    Kennedy’s disease (SBMA)

    Kennedy’s disease (SBMA) is a rare, X-linked disorder caused by AR gene mutations. It triggers progressive muscle wasting, dysphagia, and androgen insensitivity. While no cure exists, research explores ASO therapy and multidisciplinary care to manage its multisystem impact.

    18 min

  8. FEB 4

    Interstitial lung diseases (ILD)

    Interstitial lung diseases involve inflammation and scarring, often requiring multidisciplinary discussion for accurate diagnosis. Key patterns include UIP and DAD. Monitoring KL-6 levels and spirometry helps track progression. Treatments focus on antifibrotics and steroids.

    17 min
See All (242)

About

Rare disease topics discussed by two virtual hosts. This is not medical advice and may contain mistakes, hallucinations and awkward pronunciation. Content is provided as is. This project and does not represent professional or institutional opinions. Feedback is welcome.

Information