Signs & Symptoms

What are the signs or symptoms of disease?

These are some symptoms and signs; some have changes to:

• Movement - moving

  

  Movement

• Walking style - the way one walks
• Vision - being able to see

  

  Vision

  
  

  

  Speech

• Seizures - attack of illness
• Speech - the ability to speak
• Hearing - the ability to hear
• Behavior - the way one acts
• Ability to chew
• Ability to swallow
• Mental or Physical development

History of Disorder

What is the history of disorder? Who discovered it?

The first report of Leukodystrophy was by Dr. Joseph Godwin Greenfield in 1933. He was a professor of pathology and clinical medicine. However, the Krabbe disease was discovered and founded after Knud Krabbe, who was a neurologist. Also, in 2006, an active research done by researchers studying myelination is The Myelin Project. 

Dr. Joseph Godwin

Knud Krabbe

Treatments

Treatments

Leukodystrophy cannot be cured, however there are treatments that can help. Therapy and Treatments have helped several people depending on their symptoms, age and timing. 

Treatments include the following:

• Physical Therapy - Treatment of disease using physical methods such as massage rather than medications

  

  Physical Therapy

• Occupational Therapy - The use of activities as an aid for healing physical or mental illnesses

  

  Occupational Therapy

• Medications - A drug used to cure or prevent a disease

  

  Medications

• Family Counselling - A branch of psychotherapy that work with families to care and love.

Researchers are testing bone marrow transplantation as a treatment.

Genetic Pathology

What is the genetic pathology of the disorder? Essentially, how is the gene responsible for the symptoms that an afflicted individual is experiencing?

To understand Leukodystrophy, one should have knowledge on the Nervous System. It is made up of the CNS (Central Nervous System) and the PNS (Peripheral Nervous System). These two components are the major components of the nervous system and are responsible for nearly everything we do because they carry and receive signals that lead to basically everything we do.

The CNS

(Central Nervous System)

Nervous System

• The spinal cord
• The brain
• Neurons

The PNS

(Peripheral Nervous System)

• The rest of the neurons in the body (Sensory Neurons and Motor Neurons)

Myelin is another important factor which relates to both Leukodystrophy and the Nervous System. Myelin is often referred to as ‘white matter’ it is like a protective coat over neurons. With the help of the protective coat (myelin), neurons are able to transmit signals at the right speed. However, if the coat is damaged, then the neurons’ transmit signals at a slower speed which causes disruption in the proper functioning of the nervous system.

Myelin

Due to the Nervous System not being able to function normally, the symptoms that are signaled are the reason why. Leukodystrophy is an autosomal recessive. 

Autosomal Recessive

Diagnosis

Diagnosis

How is a person diagnosed with the chosen disorder?

Specialists such as neurologists, geneticists, metabolic physicians will put in their research for this disease. Types of diagnosis methods will vary depending on the type of Leukodystrophy; these are some methods:

• Blood Tests - examination of a sample of blood

  

  Blood Test

• Urine Test - numerous tests on urine and is very common 

  

  Urine Test

• MRI Scan -  used to visualize internal structures of the body

  

  MRI Scan

• Nerve conduction test - the speed or signal transmitted by nerve cells
• Physical examination - to determine a person's level of fitness
• Nerve biopsy - a piece of nerve is removed and then examined
• Genetic tests - refers to DNA
• Neurocognitive tests - linked to the brain's functions in certain parts
• Screening - Without signs or symptoms, it is used to identify unrecognized diseases

What Is Leukodystropy?

What is Leukodystrophy?

Leukodystrophy: This word describes a few diseases that affect the growth of myelin in the brain, which is a white matter. This word comes from three Greek words; leuko – white, trophy – growth, and dys – illness.

Leukodystrophy is a kind of brain disease which has multiple branches to it. There are several diseases that are types of leukodystrophies.

Some Types of Diseases:

•  Adrenoleukodystrophy - Disorder of peroxisomal fatty acid beta oxidation
• Metachromatic Leukodystrophy - A lysosomal storage disease
• Canavan Disease - An autosomal recessive; a degenerative disease
• Krabbe Disease - A fatal degenerative disorder which is very rare
• Alexander Disease - A neurodegenerative disease which is rare yet fatal
• Refsum Disease - An autosomal recessive and is a neurological disease

Adrenoleukodystrophy

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Metachromatic Leukodystrophy