14

How do I know if I have Infantile Neuroaxonal Dystrophy?

What signs or symptoms may make you suspect you may have Infantile Neuroaxonal Dystrophy. People who have experience in Infantile Neuroaxonal Dystrophy offer advice of what things may make you suspicious and which doctor you should go to to receive treatment

Do I have Infantile Neuroaxonal Dystrophy?

Infantile Neuroaxonal Dystrophy (INAD) is a rare genetic disorder that affects the nervous system. It typically begins in early childhood, usually between the ages of 6 months and 3 years. INAD is characterized by the progressive degeneration of nerve fibers in the brain and spinal cord, leading to various neurological symptoms.



Diagnosing INAD:



Diagnosing INAD can be challenging due to its rarity and the similarity of symptoms to other conditions. If you suspect that you or your child may have INAD, it is crucial to consult with a medical professional who specializes in genetic disorders or neurology. The diagnostic process typically involves:




  • Medical History: The doctor will review your medical history and ask about any symptoms or developmental delays you or your child may have experienced.

  • Physical Examination: A thorough physical examination will be conducted to assess neurological function and look for any signs of INAD.

  • Genetic Testing: Genetic testing is the most definitive way to diagnose INAD. It involves analyzing a blood or saliva sample to identify mutations in the PLA2G6 gene, which is associated with INAD.

  • Brain Imaging: Magnetic Resonance Imaging (MRI) scans may be performed to evaluate the structure and function of the brain. These scans can help identify any abnormalities that are characteristic of INAD.



Common Symptoms:



INAD presents with a wide range of symptoms, which can vary in severity and progression. Some of the most common symptoms include:




  • Motor Skills Decline: Children with INAD often experience a progressive loss of motor skills, such as crawling, walking, and coordination.

  • Visual Impairment: Vision problems, including optic atrophy and loss of central vision, are frequently observed in individuals with INAD.

  • Intellectual and Developmental Delays: INAD can cause delays in cognitive development, speech, and learning abilities.

  • Seizures: Some individuals with INAD may experience seizures, which can vary in type and severity.

  • Progressive Neurological Deterioration: Over time, the neurological symptoms of INAD worsen, leading to significant disability and loss of function.



Seeking Medical Advice:



If you suspect that you or your child may have INAD based on the symptoms described, it is crucial to consult with a healthcare professional. Only a qualified medical expert can provide an accurate diagnosis and guide you through appropriate treatment options and supportive care.


Diseasemaps
1 answer

Do I have Infantile Neuroaxonal Dystrophy?

Infantile Neuroaxonal Dystrophy life expectancy

What is the life expectancy of someone with Infantile Neuroaxonal Dystrophy...

2 answers
Celebrities with Infantile Neuroaxonal Dystrophy

Celebrities with Infantile Neuroaxonal Dystrophy

1 answer
Is Infantile Neuroaxonal Dystrophy hereditary?

Is Infantile Neuroaxonal Dystrophy hereditary?

2 answers
Is Infantile Neuroaxonal Dystrophy contagious?

Is Infantile Neuroaxonal Dystrophy contagious?

2 answers
Natural treatment of Infantile Neuroaxonal Dystrophy

Is there any natural treatment for Infantile Neuroaxonal Dystrophy?

ICD9 and ICD10 codes of Infantile Neuroaxonal Dystrophy

ICD10 code of Infantile Neuroaxonal Dystrophy and ICD9 code

2 answers
Living with Infantile Neuroaxonal Dystrophy

Living with Infantile Neuroaxonal Dystrophy. How to live with Infantile Neu...

1 answer
Infantile Neuroaxonal Dystrophy diet

Infantile Neuroaxonal Dystrophy diet. Is there a diet which improves the qu...

1 answer

World map of Infantile Neuroaxonal Dystrophy

Find people with Infantile Neuroaxonal Dystrophy through the map. Connect with them and share experiences. Join the Infantile Neuroaxonal Dystrophy community.

Stories of Infantile Neuroaxonal Dystrophy

INFANTILE NEUROAXONAL DYSTROPHY STORIES

Tell your story and help others

Tell my story

Infantile Neuroaxonal Dystrophy forum

INFANTILE NEUROAXONAL DYSTROPHY FORUM

Ask a question and get answers from other users.

Ask a question

Find your symptoms soulmates

From now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Symptoms soulmates are people with similar symptoms to you.

Symptoms soulmates

Add your symptoms and discover your soulmates map

Soulmates map