deafness-dystonia-optic neuronopathy syndrome

Deafness-Dystonia-Optic Neuronopathy (DDON) syndrome, also known as Mohr-Tranebjærg syndrome, is a rare neurodegenerative disorder characterized by early childhood sensorineural hearing loss and the sequential development of dystonia, optic atrophy, and other neurological symptoms.

Key Features:

• Early childhood onset sensorineural hearing loss [1]
• Progressive dystonia or ataxia in adolescence [9]
• Optic atrophy and vision impairment [2, 8]
• Intellectual disability and psychiatric symptoms [4, 8]
• X-linked recessive inheritance pattern [7]

Symptoms Progression:

The symptoms of DDON syndrome typically progress over time, with hearing loss being the first manifestation. As the disease progresses, individuals may experience:

• Dystonia (involuntary muscle contractions) and ataxia (loss of coordination)
• Optic atrophy and vision impairment
• Intellectual disability and psychiatric symptoms

References:

[1] - Early childhood onset sensorineural hearing loss is a hallmark feature of DDON syndrome [1] [2] - Optic atrophy and vision impairment are common in individuals with DDON syndrome [2, 8] [4] - Intellectual disability and psychiatric symptoms can occur in individuals with DDON syndrome [4, 8] [7] - DDON syndrome is inherited in an X-linked recessive pattern [7] [9] - Progressive dystonia or ataxia typically develops in adolescence [9]

Note: The information provided is based on the search results and may not be a comprehensive description of the condition.

Deaf

Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjærg syndrome, is a rare genetic disorder that affects the hearing, vision, and movement. Diagnostic tests for DDON syndrome are crucial in confirming the diagnosis and ruling out other conditions.

Genetic Testing The most common diagnostic test for DDON syndrome is genetic testing, which involves analyzing DNA samples from blood or saliva to identify mutations in the TPRN gene [1]. A multigene panel that includes deletion/duplication analysis is recommended to detect large deletions or duplications [4].

Blood Tests Blood tests may also be conducted to rule out other conditions that can cause similar symptoms. These tests typically involve collecting blood samples from two 4ml EDTA tubes, lavender top, or extracted DNA (3ug in EB buffer) [5].

Imaging Services While not directly related to DDON syndrome diagnosis, imaging services such as MRI scans, CT scans, X-rays, and ultrasounds may be used to monitor visual loss and rate of progression in patients with the syndrome [3]. However, these tests are not specific for DDON syndrome.

It's essential to note that a definitive diagnosis of DDON syndrome can only be made through genetic testing. If you suspect someone has this condition, consult a medical professional for proper evaluation and diagnosis.

References: [1] by L Tranebjærg · 2019 · Cited by 25 — Formal diagnostic criteria for deafness-dystonia-optic neuronopathy (DDON) syndrome have not been established. [3] Management of Visual Features. Regular ophthalmic examination is recommended to monitor visual loss and rate of progression. [4] Nov 21, 2019 — For this disorder a multigene panel that also includes deletion/duplication analysis is recommended; however, breakpoints of large deletions and ... [5] Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request). Test Limitations: All ...

Deafness-Dystonia-Optic Neuronopathy (DDON) syndrome, also known as Mohr-Tranebjærg syndrome, is a rare neurodegenerative disorder characterized by hearing loss, dystonia, and impaired vision. While there is no specific treatment for DDON, various management strategies can help alleviate its symptoms.

Physical Therapy and Rehabilitation

According to search result [5], physical medicine and rehabilitation, along with physical and occupational therapy, can improve fine and gross motor skills and mobility in individuals with DDON. These therapies can also prevent further deterioration of motor function.

Treatment of Dystonia and Ataxia

Search result [4] mentions that management of dystonia and ataxia associated with DDON includes treatment with GABA-agonists, along with psycho-motor re-education and physical therapy. This approach can help reduce muscle spasms and improve coordination.

Other Therapeutic Options

While there is no specific treatment for DDON, various other therapeutic options are available to manage its symptoms. These include:

• Botulinum toxin injections [6] to alleviate dystonia
• Complementary therapies, such as deep brain stimulation [6]
• Non-drug therapies and oral medications [6]

It's essential to note that these treatments may not completely reverse the symptoms of DDON but can help manage them.

Current Research and Understanding

Search result [8] by E Sousa (2023) highlights the rarity and complexity of DDON, emphasizing the need for further research into its causes and potential treatments. As our understanding of this condition evolves, new therapeutic options may become available to improve the quality of life for individuals affected by DDON.

References:

[4], [5]

Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjærg syndrome, is a rare X-linked recessive neurodegenerative disorder. When it comes to differential diagnosis, several conditions share similar features with DDON syndrome.

• MELAS syndrome: This mitochondrial disorder can present with sensorineural hearing loss, muscle weakness, and other neurological symptoms.
• Mitochondrial DNA depletion syndrome (encephalomyopathic form with methylmalonic aciduria): This condition is characterized by progressive encephalopathy, hearing loss, and metabolic disturbances.
• Arts syndrome: A rare X-linked disorder that affects the nervous system, causing hearing loss, muscle weakness, and other neurological symptoms.
• X-linked recessive disorders: Other conditions, such as X-linked adrenoleukodystrophy, can also be considered in the differential diagnosis of DDON syndrome.

According to [number 6], Differential diagnosis includes MELAS syndrome; mitochondrial DNA depletion syndrome (encephalomyopathic form with methylmalonic aciduria); Arts syndrome; X- ...