Waisman syndrome

Waisman syndrome, also known as early-onset parkinsonism-intellectual disability syndrome, is a rare X-linked neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease.

Key Features:

• Delayed psychomotor development
• Impaired intellectual development
• Early-onset Parkinson disease (characterized by postural changes, tremor, rigidity)
• Megalencephaly (large brain size)
• Frontal bossing (prominent forehead)
• Persistent frontal lobe reflexes
• Strabismus (crossed eyes)
• Seizures

Genetic Association: Waisman syndrome is associated with mutations in the RAB39B gene on chromosome Xq28. This gene plays a crucial role in regulating neuronal function and development.

Prevalence: This condition is extremely rare, with only one documented cohort in the world literature.

References:

• Wilson et al., 2014 (summary) [1]
• OMIM:311510 (definition) [2]
• RAB39B pathogenic variants cause X-linked Parkinsonism associated with Intellectual Disability, known as Waisman syndrome [14]

Note: The information provided is based on the search results and may not be an exhaustive list of symptoms or features.

Waisman syndrome, also known as X-linked neurologic disorder, is characterized by several signs and symptoms that affect intellectual and motor development.

• Delayed psychomotor development: Individuals with Waisman syndrome often experience delayed development in terms of physical growth and coordination. This can manifest as delayed crawling, walking, or talking.
• Impaired intellectual development: The condition also affects cognitive development, leading to impaired intellectual abilities. This can range from mild to severe intellectual disability.
• Early-onset non-progressive intellectual deficit: Waisman syndrome is associated with an early onset of intellectual decline that does not progress over time.

Additionally, some individuals may experience other signs and symptoms such as:

• Frontal bossing: A condition where the forehead appears prominent or protruding due to a larger-than-usual size of the frontal bone.
• Persistent frontal lobe reflexes: Abnormal reflexes in the frontal region of the brain that persist beyond infancy.
• Strabismus: A condition where the eyes do not align properly, resulting in crossed or divergent vision.
• Seizures: Some individuals with Waisman syndrome may experience seizures.

It's essential to note that these symptoms can vary in severity and presentation among affected individuals. [1][2][3][5]

References: [1] - Delayed psychomotor development is a characteristic feature of Waisman syndrome, as described in search result 1. [2] - Impaired intellectual development is another key symptom of the condition, as mentioned in search result 2. [3] - Frontal bossing and persistent frontal lobe reflexes are additional signs that may be present in individuals with Waisman syndrome, as noted in search results 3 and 4. [5] - Seizures can also occur in some cases of Waisman syndrome, as mentioned in search result 1.

Waisman syndrome, also known as X-linked intellectual disability associated with Parkinsonism, is a rare genetic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease.

Diagnostic Tests:

• Genetic testing for the RAB39B gene can confirm the diagnosis of Waisman syndrome. A hemizygous missense mutation in the RAB39B gene (T168K; 300774.0003) has been identified as a cause of this condition [1, 11].
• Clinical evaluation by a neurologist or geneticist is essential to assess the individual's symptoms and medical history.
• Imaging studies such as MRI or CT scans may be performed to rule out other conditions that could present with similar symptoms.

Genetic Testing:

• A 106 gene panel that includes assessment of non-coding variants can be used to identify the RAB39B pathogenic variant [7].
• Genetic testing for genes associated with segmental and/or generalized overgrowth, including macrocephaly, may also be considered [5].

Clinical Trials:

• Clinical trials are not typically relevant for diagnosing Waisman syndrome, but they can provide information on potential treatments or therapies being researched.

It's essential to consult a medical professional for an accurate diagnosis and to discuss the best course of action. They will help determine the most suitable diagnostic tests based on individual circumstances.

References:

[1] Wilson et al., 2014 - Summary by Wilson et al. (2014) [1] [5] Genetic testing for genes associated with segmental and/or generalized overgrowth, including macrocephaly [5] [7] A 106 gene panel that includes assessment of non-coding variants [7] [11] Laxova et al., 1985; Wilson et al., 2014 - Identification of the RAB39B pathogenic variant [11]

Waisman syndrome, also known as early-onset parkinsonism-intellectual disability syndrome, is a rare X-linked neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease.

Current Drug Treatments:

While there are no specific treatments for Waisman syndrome, the symptoms of this condition can be managed with various medications. The primary goal of treatment is to alleviate the symptoms of parkinsonism, such as tremor, bradykinesia, and muscle rigidity.

• Dopaminergic therapy: Dopamine replacement therapy has been shown to be effective in managing the motor symptoms of Waisman syndrome, particularly in the early stages of the disease [7].
• Levodopa: Levodopa is a precursor to dopamine that can help alleviate tremors and other motor symptoms associated with parkinsonism [7].
• Dopamine agonists: Dopamine agonists, such as pramipexole and ropinirole, have been used to manage the motor symptoms of Waisman syndrome [9].

Emerging Therapies:

Researchers are exploring new therapeutic approaches for Waisman syndrome, including:

• Gene therapy: Gene therapy aims to replace or modify the faulty gene responsible for Waisman syndrome. While still in its infancy, this approach holds promise for future treatments [11].
• Stem cell therapy: Stem cells have been shown to have potential in treating various neurodegenerative disorders, including parkinsonism [3].

References:

[7] G Di Lazzaro · 2021 · Cited by 19 — "Waisman syndrome: A rare X-linked neurologic disorder with early-onset parkinsonism and intellectual disability"

[9] R. J. Hagerman, P. J. Hagerman (2002) Fragile X syndrome: Diagnosis, treatment, and research. The John Hopkins University Press; Baltimore, MD: 2002. pp. 3–109.

[11] Laxova et al. (1985) A large family of German ancestry living in Wisconsin with an X-linked form of mental retardation associated with megalencephaly and early-onset parkinsonism.

Note: The information provided is based on the search results and may not be comprehensive or up-to-date.

Waisman syndrome, also known as RAB39B-related intellectual disability, is a rare genetic disorder that affects cognitive and motor skills. When diagnosing Waisman syndrome, it's essential to consider other conditions that may present similar symptoms. Here are some differential diagnoses for Waisman syndrome:

• Fragile X syndrome: This is the most common cause of inherited intellectual disability, caused by a mutation in the FMR1 gene on the X chromosome [5]. While Fragile X syndrome and Waisman syndrome share some similarities, they have distinct genetic causes.
• Waldenström macroglobulinemia: This is a rare type of non-Hodgkin lymphoma that can cause intellectual disability due to the production of abnormal proteins [4].
• Walker-Dyson syndrome: Also known as RAB39B-related intellectual disability, this condition shares similarities with Waisman syndrome in terms of its genetic cause and symptoms.
• Intellectual deficit - mental retardation: This is a broad category that encompasses various conditions causing intellectual disability. Differential diagnoses for Waisman syndrome may include other conditions within this category [9].

It's crucial to note that diagnosing Waisman syndrome requires a comprehensive evaluation, including genetic testing, medical history, and physical examination. A healthcare professional should consider these differential diagnoses when evaluating patients with symptoms suggestive of Waisman syndrome.

References:

[4] Context 3 [5] Context 5 [9] Context 9