AdministratorWhat is spastic paraplegia type 15?
Spastic paraplegia type 15 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).
Is spastic paraparesis fatal?
People with spastic paraplegia type 49 can develop recurrent episodes of severe weakness, hypotonia, and abnormal breathing, which can be life threatening.
Can spastic paraplegia be cured?
Currently, no specific treatment exists to prevent, retard, or reverse progressive disability in patients with hereditary spastic paraplegia (HSP).
Is spastic a derogatory term?
When people use the R-word, or spastic and spaz, it is often to insult someone, or to call someone or something stupid or uncoordinated. What’s wrong with this? Simply it’s hurtful and derogatory. These words suggest people with a disability are stupid or flawed.
What is chronic spasticity?
Spasticity is abnormal muscle tightness due to prolonged muscle contraction. It is a symptom associated with damage to the brain, spinal cord or motor nerves, and is seen in individuals with neurological conditions, such as: Cerebral palsy (CP) Multiple sclerosis (MS) Stroke.
What is the history of Kjellin syndrome?
Kjellin syndrome, first described in 1959, 1 comprises a characteristic retinal appearance associated with a complex hereditary spastic paraplegia. Patients with SPG11, SPG15, SPG21 and SPG32 mutations have corpus callosum thinning on MR scanning.
What are the signs and symptoms of Kjellin syndrome?
Her mother has very subtle hyperpigmented retinal lesions. Kjellin syndrome, first described in 1959, 1 comprises a characteristic retinal appearance associated with a complex hereditary spastic paraplegia. Patients with SPG11, SPG15, SPG21 and SPG32 mutations have corpus callosum thinning on MR scanning.
What is Martin-Bella syndrome?
The Martin-Bella syndrome develops due to the complete or partial cessation of the production of a specific protein by the body. This is due to the lack of response from a gene like FMR1, localized in the X chromosome.
What is the cause of Martin Bell syndrome?
Causes of the the Martin-Bell syndrome. This is due to the lack of response from a gene like FMR1, localized in the X chromosome. Mutation occurs as a result of rearrangement of the structure of the gene from unstable structural variants of gene states (alleles), and not from the very beginning.