Motor Neuron Diseases

Hereditary motor neuron diseases affect the nerves that control voluntary muscle activity, which includes diseases such as amyotrophic lateral sclerosis (ALS), hereditary spastic paraplegia (HSP), and spinal muscular atrophy (SMA). These conditions are variably progressive with symptoms that include muscle weakness and atrophy, spasticity, and overactive tendon reflexes.

Video: HSP and Ataxia Next Generation Sequencing

Testing for Genetic Causes of Motor Neuron Disease

Athena Diagnostics offers hereditary spastic paraplegia (HSP) evaluations to aid in diagnosis. HSP affects between 1.3 and 9.6 in 100,000 and is frequently diagnosed by exclusion, since MRI, cerebrospinal fluid (CSF) studies, electromyogram (EMG) and nerve conduction velocity (NCV) are often uninformative. (GeneReviews

We also offer genetic testing for amyotrophic lateral sclerosis (ALS) that may detect up to 70% of familial disease. Over 5,600 individuals in the U.S. are diagnosed with ALS each year, and 30,000 are estimated to have the disease at any one time. ( Nearly 1/3 of ALS patients are misdiagnosed with vascular pseudobulbar palsy or cervical myelopathy, with 20% undergoing unnecessary surgeries as a result. (Srinivasan J et al.)

Our staff of genetic counselors and laboratory directors is available to assist you in the ordering process.


Further Educational Resources

Letters of Medical Necessity

Medical Affairs Resources

Athena Diagnostics Client Services - (800) 394-4493 Option 2

Athena Diagnostics Genetic Counselors -

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Athena Diagnostics knows that motor neuron disease can be challenging to manage. We are committed to providing quality testing to find the cause of you or your loved one's ALS, SMA, HSP, or other motor neuron disease.

Athena Alliance Program

We offer the Athena Alliance Program to make testing accessible and affordableLearn more about the program here.

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