Families

BANDDOS Syndrome Overview
•    Clinical Presentation:
Patients with BANDDOS (Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis) syndrome exhibit three hallmark symptoms:
(a) Progressive cognitive impairment (declining memory/thinking skills)
(b) Worsening motor function (difficulty walking/moving)
(c) Muscle stiffness (spasticity) with epilepsy (focal seizures)

•    Key Diagnostic Findings:
•    Brain imaging shows:
(a) White matter damage
(b) Calcium deposits around brain ventricles
(c) Underdeveloped corpus callosum (brain connection structure)
•    Bone abnormalities include:
(a) Harder, denser bones throughout the body (osteosclerosis)
(b) Flared ends of long bones (seen on X-rays)

•    Genetic Cause & Inheritance:
Caused by inheriting two faulty copies of the CSF1Rgene (one from each parent)
Parents are healthy "carriers" with one normal and one faulty gene

Each child of carrier parents has:
•    25% chance to have the disease
•    50% chance to be a healthy carrier
•    25% chance to be unaffected

•    How Rare Is It?
•    Extremely uncommon - affects fewer than 1 in 1,000,000 people
•    Fewer than 100 cases reported worldwide