Spastic ataxia with congenital miosis

Spastic ataxia with congenital miosis is an extremely rare inherited neurological condition that affects both movement and the eyes. The disease combines two main problems: spastic ataxia, which means a mix of muscle stiffness (spasticity) and poor coordination of movements (ataxia), and congenital miosis, which means the pupils of the eyes are abnormally small from birth and do not widen properly in dim light. People with this condition typically have difficulty walking and coordinating their movements due to problems in the brain and spinal cord, particularly the cerebellum (the part of the brain that controls balance and coordination) and the nerve pathways that control muscle tone. The small pupils can affect vision, especially in low-light conditions. This condition has been described in only a very small number of families in the medical literature, making it one of the rarest forms of hereditary ataxia. Because so few cases have been reported, treatment is mainly supportive and focused on managing symptoms. Physical therapy, occupational therapy, and assistive devices may help with mobility and daily functioning. There is currently no cure or disease-specific treatment available.

Bring these to your next appointment

• Q1.How quickly is this condition likely to progress in my case or my child's case?,What types of physical therapy are most helpful for this condition?,Are there medications that can help with the muscle stiffness?,Should we pursue genetic testing, and what might it tell us?,What can be done to help with the small pupils and vision in low light?,Are there any clinical trials or research studies we could participate in?,What school or workplace accommodations should we request?

Common questions about Spastic ataxia with congenital miosis

Related conditions

Other rare diseases commonly researched alongside Spastic ataxia with congenital miosis.

• Autosomal dominant cerebellar ataxia→
• Friedreich ataxia→
• Hereditary spastic paraplegia→