Table of Contents
Is HSP genetically determined?
Genetic testing is often helpful in confirming the clinical diagnosis of HSP and in determining the genetic type of HSP. Results of genetic testing can be used, together with clinical information, to provide genetic counseling. Neurologic examination is important for patients with symptoms of HSP.
Can HSP be passed down?
Most forms of HSP are autosomal dominant. Autosomal means the HSP gene is located on one of the autosomal chromosomes. The gene can be present in either sex, and it can be passed down from either a mother or a father to a son or a daughter. Dominant means that only one HSP gene is needed to cause the disorder.
What gene causes HSP?
Mutations in the SPG4 gene (spastin protein) are responsible for approximately 40\% of autosomal dominant HSP cases. Hereditary spastic paraplegia due to SPG4 gene mutation is the single most common form of autosomal dominant HSP, and possibly the single most common form of any type of HSP.
Is HSP a form of MS?
HSP shares several clinical features of the progressive phase in Multiple Sclerosis (MS) which is a chronic neurodegenerative disease characterized by multiple areas of central nervous system (CNS) inflammation, demyelination and axonal loss.
Do neurological disorders run in families?
While most neurological conditions are not inherited, some, like Alzheimer’s disease, epilepsy and Parkinson’s disease to name a few, may run in families. At NorthShore, genetic testing is available for these hereditary neurological disorders and others.
Does HSP affect speech?
Wherever symptoms originate, the legs, arms, hands, and speech and swallowing muscles will all eventually be affected. In time, assistive devices are needed, such as canes, walkers, or wheelchairs. Speech therapy and communication aids may become necessary as well.
What is the most common inherited neurological disorder?
CMT, also known as hereditary motor and sensory neuropathy, is one of the most common inherited neurological disorders, affecting an estimated 126,000 individuals in the United States and 2.6 million people worldwide. Nearly all cases are inherited.