Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Troyer syndrome is a complex hereditary spastic paraplegia.
People with Troyer syndrome can experience a variety of signs and symptoms. The most common characteristics of Troyer syndrome are spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings. Other characteristics can include exaggerated reflexes (hyperreflexia) in the lower limbs, uncontrollable movements of the limbs (choreoathetosis), skeletal abnormalities, and a bending outward (valgus) of the knees.
Troyer syndrome causes the degeneration and death of muscle cells and motor neurons (specialized nerve cells that control muscle movement) throughout a person's lifetime, leading to a slow progressive decline in muscle and nerve function. The severity of impairment related to Troyer syndrome increases as a person ages. Most affected individuals require a wheelchair by the time they are in their fifties or sixties.
Troyer syndrome is caused by a mutation in the SPART gene. The SPART gene provides instructions for producing a protein called spartin, whose function is not entirely understood. Researchers believe that spartin may be involved in a variety of cell functions, from breaking down proteins to transporting materials from the cell surface into the cell (endocytosis). Spartin is found in a wide range of body tissues, including the nervous system.
About 20 cases of Troyer syndrome have been reported in the Old Order Amish population of Ohio. It has not been found outside this population.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Theodore Brown is a Physiatrist in Kirkland, Washington. Dr. Brown has been practicing medicine for over 33 years and is rated as a Distinguished doctor by MediFind in the treatment of Troyer Syndrome. He is also highly rated in 13 other conditions, according to our data. His top areas of expertise are Multiple Sclerosis, Spastic Paraparesis, Spastic Paraplegia Type 4, and Spastic Paraplegia Type 11. He is board certified in Physical Medicine And Rehabilitation and licensed to treat patients in Washington. Dr. Brown is currently accepting new patients.
Malgorzata Milewska is in Dublin, Ireland. Milewska is rated as a Distinguished expert by MediFind in the treatment of Troyer Syndrome. She is also highly rated in 1 other condition, according to our data. Her top areas of expertise are Troyer Syndrome, Spasticity, Retinoblastoma, and Spastic Paraparesis.
Craig Blackstone is a Neurologist in Boston, Massachusetts. Dr. Blackstone has been practicing medicine for over 28 years and is rated as a Distinguished doctor by MediFind in the treatment of Troyer Syndrome. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Spastic Paraplegia Type 7, Spastic Paraplegia Type 4, Paraplegia, and Spasticity. He is board certified in Neurology and licensed to treat patients in Massachusetts.
There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.