EGL Genetics Blog

Clinical Presentations of Common Neurologic Disorders

Posted by Antonio Shaw on Nov 13, 2015 11:31:02 AM

In order to provide patients with accurate diagnoses, it is imperative that clinicians select the correct genetic tests that correspond with their patients’ symptoms. However, due to the myriad potential symptoms for inherited neurologic disorders, it can sometimes prove challenging to match a series of symptoms with the most probable disorder. Furthermore, there are mutliple testing options available to clinicians; laboratories may offer similar or identical tests for the same genetic disorder. To assist clinicians, we have provided common clinical features for each of the disorders below.

Please note that this is not an exhaustive list of all the neurologic conditions for which we offer testing. Rather, it is a list of some of the most commonly tested neurologic disorders. For more information on the disorders presented here, please download, “Genetic Testing for Neurologic Disorders: A Clinician’s Guide.” 

Download Genetic Testing for Neurologic Disorders: A Clinician's Guide

Clinical Presentations of Common Neurologic Disorders

Inherited Neurologic Disorder

Clinical Presentation

Neuromuscular Disorders

Muscle weakness, muscle wasting, twitching, cramps, aches and pains, and joint and movement problems. Clinical signs may also include heart dysfunction and respiratory impairment.

Congenital Hypotonia Panel

Decreased muscle tone. May have difficulty feeding and with motor control.


Characterized by involuntary muscle contractions that cause slow repetitive, sometimes painful, movements or abnormal postures. Tremors or other neurologic features may also be present. Dystonia may affect only one muscle, groups of muscles, or muscles throughout the body.

Autism Spectrum Disorders

Characterized by impairment in social relationships, variable degrees of language and communication deficits, and repetitive behaviors and/or a narrow range of interests.

Fragile X

Difficulties with intellectual functioning, macrocephaly, behavioral challenges, speech and language challenges, and sensory perception.

Fabry Disease

Pain, angiokeratomas, hypohidrosis, gastrointestinal symptoms that mimic chronic inflammatory bowel disease, recurrent nausea and vomiting, vertigo, tinnitus, headaches, and fevers. Symptoms usually begin in childhood or adolescence.

Rett Syndrome

Loss of normal movement and coordination, loss of communication skills, abnormal hand movements, unusual eye movements, breathing problems, agitation and irritability, cognitive disabilities, seizures, pain, slowed growth, irregular heartbeat, and a variety of other symptoms.


Temporary confusion, staring spells, loss of consciousness and awareness, and jerking movements of the extremities.


Niemann-Pick Disease

Persistent early jaundice, enlarged abdomen, poor nutritional and developmental progress, hepatosplenomegaly, delayed physical and mental growth, severe neurologic disturbances, including hypotonia, rigidity, and mental retardation.

Neuronal Ceroid-Lipofuscinoses

Progressive intellectual and motor deterioration, seizures, and early death.

Tuberous Sclerosis

Multiple benign hamartomas of the brain, eyes, heart, lung, liver, kidney, and skin. Other symptoms include seizures, intellectual disabilities, and behavioral problems, and skin abnormalities.



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