Beta Propeller Associated Neurodegeneration (BPAN) is a rare genetic condition, which damages the nervous system and is progressive in nature. Less than 500 people have been diagnosed with BPAN. It mostly affects females, however, males can also be affected.
BPAN is caused by a mutation in the WDR45 gene. This mutation results in a buildup of iron in the brain, although this may not occur until late in the disease. This accumulation of excess iron damages the neurons (nerve cells), thereby causing neurological problems.
BPAN can cause epilepsy, intellectual disability, and delayed gross motor, fine motor, and communication development. Several different types of seizures can occur, including febrile (triggered by fever), tonic-clonic (generalised muscle rigidity, convulsions, loss of consciousness), absent (short lapses in awareness), atonic (sudden episodes of weak muscle tone), or myoclonic (involuntary muscle spasms).
Children with BPAN typically present with significant problems with expressive language (vocabulary and producing speech), and difficulties coordinating movements (ataxia). Affected individuals may also experience neurodevelopmental issues that are similar to Rett syndrome, including repeated hand wringing, teeth grinding, sleep disturbances, and issues with communication and social interaction.
BPAN is a progressive condition, meaning it gradually worsens – this gradual loss of cognitive function and onset of dystonia (involuntary, sustained muscle contractions) and Parkinsonism (unusually slow movements, rigidity, tremors, postural instability, and a shuffling walking pattern) typically begins in late adolescence or early adulthood. Children with BPAN also have a reduced life expectancy.
There is currently no cure for BPAN, and no available treatments to slow its progression. However, early intervention through both weekly and intensive therapy sessions can help manage symptoms, improve quality of life, and support the child to reach their fullest potential. Therapies may include physiotherapy, occupational therapy, and speech therapy.
Kate is a paediatric physiotherapist at NAPA Centre Sydney. Kate knows that a little bit of fun and laughter is the key to getting the job done. After seeing the benefits of intensive therapy firsthand, Kate is excited to help make a difference in the lives of NAPA kids and their families.
NAPA specialises in working with children with physical and neurological delays. In addition to working with children with more common diagnoses such as cerebral palsy and Down syndrome, NAPA has a special interest and expertise with children with rare, multiple and complex conditions. NAPA Centre’s Intensive Model of Therapy (IMOT) is world-renowned, and one of the leading clinics in Australia for paediatric therapy programs with a large multi-discliplinary team of Occupational Therapists, Physiotherapists and Speech Therapists all working together. Families routinely travel from all parts of Sydney, the NSW region, from across Australia and even from the Australasian region to access NAPA’s unique and effective programs for their children.
