My Rare Universe Foundation / Fundación Mi Raro Universo

My Rare Universe Foundation / Fundación Mi Raro Universo We are Rare Disease advocates / Somos defensores de los pacientes raros. Help promote all information related with medical advancement and drug development.

Our Mission:
Educate rare disease patients on how to cope with their condition by promoting personal experiences and testimonies through social media, website, books, movies, among others. Provide a platform for available resources, patient registries and help promote all related medical advancement and drugs development. Create awareness on the importance of organs, tissue and body donation for education and help advance medical science.

04/07/2026

Hoy queremos visibilizar la fuerza de nuestra comunidad en la región. 💜

El censo de Cure SYNGAP Latam nos muestra que ya somos 71 registros en Latinoamérica, una cifra que refleja no solo números, sino historias, familias, luchas y esperanza.

Así está conformada nuestra comunidad:
Argentina: 22
Colombia: 16
Chile: 12
México: 9
Perú: 4
República Dominicana: 3
Venezuela: 1
Guatemala: 1
Uruguay: 1
Paraguay: 1
Ecuador: 1

Cada registro representa una voz que cuenta, una familia que merece ser escuchada y una causa por la que seguimos trabajando unidos. Este censo nos impulsa a continuar creando conciencia, fortaleciendo redes de apoyo y haciendo visible el SYNGAP1 en toda Latinoamérica. 🌎✨

Juntos somos más fuertes.

02/25/2026

Did anyone ever wished, with all respect to cancer patients, to have a cancer diagnosis instead of any rare disease?

It is sad but why is there so much research and treatment for cancer? $$

Let’s talk about the elephant in the room🐘

This is a golden explanation for OTC and TCS. Thank you Dr. Gilete
02/13/2026

This is a golden explanation for OTC and TCS. Thank you Dr. Gilete

What is the difference between Tethered Cord (TC) and Occult Tethered Cord?

Tethered Cord Syndrome (TCS) is defined as a stretch-induced functional disorder of the spinal cord wherein the caudal spinal cord is mechanically anchored by an inelastic structure. The classical diagnostic criteria mandate the convergence of clinical symptomatology with macro-anatomical radiographic anomalies. Specifically, the conus medullaris is visualized terminating below the L2 vertebral level, often accompanied by a thickened filum terminale (>2 mm) or spinal dysraphisms (e.g., lipomyelomeningocele) [Hertzler et al., 2010; Yamada et al., 2004].

In contrast, Occult Tethered Cord Syndrome (OTCS)—also referred to as Tight Filum Terminale Syndrome with a normal conus—presents a diagnostic challenge. It describes a subset of patients who exhibit the classic metabolic and ischemic symptomatology of TCS but present with a structurally normal conus position (at or above the L1-L2 disc space) and often a filum of normal thickness on standard supine MRI [Steinbok et al., 2007; Warder & Oakes, 1993]. In these cases, the pathology is attributed to decreased viscoelasticity of the filum rather than gross anatomical malposition.

2. Radiographic Assessment: Supine vs. Prone MRI

Standard Supine Lumbosacral Magnetic Resonance Imaging (MRI) remains the gold standard for identifying classic TCS. It effectively visualizes the low-lying conus and associated masses. However, its sensitivity is significantly reduced in OTCS, where the static supine position may mask the mechanical tension of the filum.

To address this, the Prone MRI protocol has emerged as a critical adjunctive diagnostic tool.

• Physiological Rationale: In a prone (face-down) position, gravity should naturally displace a non-tethered spinal cord and filum terminale anteriorly (ventrally) within the thecal sac.
• Pathological Findings: In OTCS, the loss of filum compliance prevents this anterior migration. A lack of anterior displacement, or the visualization of the filum remaining not completely anterior in the thecal sac during prone imaging, serves as a surrogate marker for mechanical tethering.
• Nerve Root Trajectory: Prone imaging may also reveal dorsal angulation of the nerve roots, suggesting posterior traction even in the absence of conus descent.

3. Functional Diagnostics and Symptomatology

Given the ambiguity of static imaging in OTCS, functional verification is mandatory.

• Urodynamics (UDS): Neurogenic bladder dysfunction is a hallmark of occult tethering. Studies indicate that urodynamic abnormalities (e.g., detrusor overactivity, dyssynergia) are present in up to 73% of patients with OTCS and may improve following filum sectioning [Metcalfe et al., 2006].
• Neurophysiology: Somatosensory Evoked Potentials (SSEP) and Motor Evoked Potentials (MEP) provide objective data on dorsal column and corticospinal tract integrity, respectively. While useful, normal SSEP/MEP findings do not rule out OTCS due to the intermittent nature of the ischemic insults [Sala et al., 2007].

Clinical Presentation Profile:

The symptomatology is consistent across both Classic TCS and OTCS, characterized by the triad of:

1. Urological/Gastrointestinal: Urinary frequency, incontinence, retention, recurrent UTIs, and constipation/encopresis.
2. Neurological: Lower extremity paresis, paresthesias, and gait disturbances.
3. Musculoskeletal: Lumbosacral pain (often exacerbated by flexion) and non-dermatomal leg pain.

12/11/2025

💙 Syringomyelia research: Orthopedic Manifestations of Syringomyelia: A Comprehensive Review

"The orthopedic manifestations of syringomyelia are often under-recognized, yet they may be among the earliest signs of the disease. Neurogenic joint arthropathy, postural deformities, pes cavus (hollow arch under the foot), scoliosis, and progressive gait disturbances can be key clinical clues, often prompting referral to orthopedic care."

📖Read the full study: https://link.springer.com/article/10.1007/s10143-025-03864-9

www.ASAP.org

10/23/2025

10/23/2025

Neuroimmune hosts a private FB group for patients and families that strives to be a safe, welcoming, and supportive environment for families facing PANS, PANDAS, encephalitis, and related inflammatory brain conditions. Join us: https://www.facebook.com/groups/1192273817802192

10/22/2025

Intracranial Hypotension, Diagnosis and Novel ManagementPresented by: Mario Zanaty, MDSpontaneous cerebrospinal fluid (CSF) leak is a challenging and often u...

10/17/2025

08/05/2025

https://www.rarediseasesinternational.org/wp-content/uploads/2025/05/Announcement-Resolution-Adoption-Coalition-24-May.pdf

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Edmonton, AB

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