Neuromuscular diseases (NMD)
Disorders of motor neurons, peripheral nerves or muscles — Spinal Muscular Atrophy (SMA Types 1–4), Duchenne and Becker muscular dystrophy, Charcot-Marie-Tooth (CMT), Congenital Myasthenic Syndromes and Congenital Muscular Dystrophies. Progressive muscle weakness managed through DMI, suit therapy, NISE-Stim/TASES and Galileo training.
Syndromes we work with
We have hands-on experience with the syndromes named below — and with many rare variants that don't fit neatly into any of them. If your child's diagnosis isn't here, please reach out: we work with complex and rare cases every day.
- Spinal Muscular Atrophy (SMA Types 1–4)Gene · SMN1
- Duchenne Muscular Dystrophy (DMD)Gene · DMD · X-linked
- Becker Muscular DystrophyGene · DMD
- Charcot-Marie-Tooth (CMT)Gene · PMP22 · MFN2 · others
- Congenital Myasthenic Syndromes (CMS)
- Congenital Muscular Dystrophies (CMD)
- Myotonic Dystrophy
Neurological & Genetic
- Genetic syndromes
Complex genetic conditions — Down, Rett, Angelman, PURA, CHARGE, 22q11.2 (DiGeorge), Phelan-McDermid, Prader-Willi, Williams, Cri-du-chat and Fragile X syndromes — typically presenting with global developmental delays, tone abnormalities, cognitive impairment and motor coordination challenges. Our ORCA framework architects therapy around each child's specific clinical picture.
- Neurodegenerative diseases & Parkinson's
Chronic progressive degeneration of the nervous system. In children, usually rare metabolic or storage disorders.
- Peripheral nerve & plexus injuries
Damage to peripheral nerve structures (e.g. birth-related brachial plexus injury) — flaccid paralysis, sensory deficits, asymmetry.