Infantile neuroaxonal dystrophy: Year of the Zebra

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Introduction0:00–0:50

Infantile neuroaxonal dystrophy or in a for short, is a rare and rapidly progressive neurodegenerative disorder that begins in early childhood.
It's caused by mutations affecting the PL 2 g six gene, which provides instructions for making an enzyme called phospholipase A two.
This enzyme is important for breaking down fatty molecules called phospholipids, which are one of the main components of the cell membrane, impaired function of phospholipase.
A two is thought to disrupt the structure of the cell membrane resulting in the degeneration of nerve cells. In a is typically inherited in an autosomal recessive pattern.
Meaning two copies of the mutated gene must be present for individuals to develop the disorder. All right.

Clinical Manifestations0:50–2:24

Now, clinical manifestations of in a typically begin between six months and three years of age. Initially, Children with inad can meet their developmental milestones but then begin to experience delays in reaching milestones like crawling or talking.
As the disorder progresses, Children experience a regression in motor verbal and cognitive skills. For example, a child who could initially speak a few words or grasp objects with their hand, gradually lose these skills of note.
Individuals with inad commonly experience progressive dementia by three years of age, individuals with in NAD may also have visual problems like strabismus or the eyes do not align with each other nystagmus, which is the presence of involuntary rapid eye movements and some may even develop vision loss.
There may be motor symptoms such as hypotonia or a weak muscle tone or muscle spasticity, which is characterized by having tight or stiff muscles and involuntary muscle spasms.
Eventually individuals lose their ability to move and walk independently and may need help with tasks like feeding or changing positions.
Muscle weakness can also cause swallowing and breathing difficulties leading to complications such as aspiration, pneumonia.
Unfortunately, the progression of the disorder is usually rapid and individuals do not often live past the first decade of life.
AAD may be suspected based on a clinical evaluation of symptoms and medical history. Definitive diagnosis is confirmed through genetic testing.

Diagnosis2:24–2:51

Looking for mutations in the PL 2 g six gene. Additional tests that may be done to determine the extent of the disorder include a brain MRI an electroencephalogram or eeg to monitor the brain's electrical activity and nerve conduction studies.
Currently, there is no known cure for in a but supportive treatment can help manage the symptoms. Children with difficulty walking may use orthotic devices like braces or a wheelchair or as individuals with difficulty feeding can be treated with a feeding tube.

Treatment2:51–3:20

Finally, supportive strategies like physical speech and occupational therapy may help individuals retain motor functioning and prevent complications as long as possible.
All right, as a quick recap, infantile neuroaxonal dystrophy is a rare disorder of the nervous system that begins in early infancy and causes progressive loss of all cognitive, verbal and motor skills.

Review3:20–3:49

Diagnosis is based on genetic testing, looking for mutations of the P 2 g six gene and treatment focuses on managing symptoms through orthotic devices, nutritional support and physical speech and occupational therapy.