Pelizaeus-Merzbacher spectrum disorder
An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.
Also known as: HLD1, PMD, Pelizaeus-Merzbacher brain sclerosis, Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease, X-linked recessive, Pelizaeus-Merzbacher spectrum disorder, Sudanophilic leukodystrophy, Paelizeus-Merzbacher type, diffuse familial brain sclerosis, sudanophilic leukodystrophy, Paelizeus-Merzbacher type, Pelizaeus Merzbacher disease.
Category: General
Symptoms associated with Pelizaeus-Merzbacher spectrum disorder
The following symptoms have been associated with Pelizaeus-Merzbacher spectrum disorder in medical literature. Not everyone experiences the same symptoms.
Depression
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these m...
Dysphagia
Difficulty in swallowing....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Intention tremor
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an o...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Tests used to investigate Pelizaeus-Merzbacher spectrum disorder
Healthcare providers may order these tests when evaluating Pelizaeus-Merzbacher spectrum disorder. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with Pelizaeus-Merzbacher spectrum disorder, which is why a clinical evaluation is important.
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Frequently Asked Questions
What is Pelizaeus-Merzbacher spectrum disorder?
Pelizaeus-Merzbacher spectrum disorder is a health condition described in medical literature. An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.
What are the symptoms of Pelizaeus-Merzbacher spectrum disorder?
Pelizaeus-Merzbacher spectrum disorder is associated with 7 symptoms in the medical literature we index, including Depression, Dysphagia, Failure to thrive, Hearing impairment, Intention tremor, Seizure. Symptoms vary widely between individuals.
How is Pelizaeus-Merzbacher spectrum disorder diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Pelizaeus-Merzbacher spectrum disorder include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have Pelizaeus-Merzbacher spectrum disorder, please discuss your symptoms with a qualified healthcare provider.