infantile cerebellar-retinal degeneration

Infantile Cerebellar-Retinal Degeneration (ICRD) Description

Infantile cerebellar-retinal degeneration (ICRD) is a severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months [3][4]. It primarily affects the eyes and the brain, making it a rare hereditary neurological disorder [7].

The condition is marked by early truncal hypotonia, variable forms of seizures, athetosis (involuntary movements), severe global developmental delays, and progressive visual loss [2][8]. This degenerative disorder leads to profound psychomotor retardation, affecting the overall development and well-being of affected individuals [9].

ICRD is an extremely rare condition, with limited information available on its diagnosis, treatment, or prognosis. However, it is essential for medical professionals to be aware of this condition to provide accurate diagnoses and supportive care to affected families.

Key Features:

• Severe autosomal recessive neurodegenerative disorder
• Onset between ages 2 and 6 months
• Truncal hypotonia, seizures, athetosis, severe global developmental delays, and progressive visual loss
• Profound psychomotor retardation

References: [1] Not applicable (context provided) [2] Oct 14, 2024 — A rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental ... [3] Infantile cerebellar-retinal degeneration (ICRD) is a severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months. [4] Infantile cerebellar-retinal degeneration (ICRD) is a severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 ... [7] Infantile cerebellar retinal degeneration is a rare hereditary neurological disorder which primarily affects the eyes and the brain. [8] A severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, ... [9] Infantile cerebellar-retinal degeneration (ICRD) is a disorder characterized by profound psychomotor retardation and progressive visual loss, ...

Infantile Cerebellar-Retinal Degeneration (ICRD) Signs and Symptoms

Infantile cerebellar-retinal degeneration, also known as ICRD, is a rare genetic condition that affects the brain and eyes. The signs and symptoms of this condition typically begin to appear around 2-6 months of age.

• Developmental Delays: Infants with ICRD often experience developmental delays, which can manifest as delayed rolling, sitting, or recognition of family members [4].
• Neurological Signs: Truncal hypotonia (low muscle tone), seizures, athetosis (involuntary movements), and head bobbing are common neurological signs associated with ICRD [5].
• Eye Abnormalities: Optic atrophy and nystagmus (abnormal eye movement) can also be present in individuals with ICRD [2].
• Progressive Brain Changes: Brain MRI scans may show progressive changes, indicating the degenerative nature of this condition [3][9].

It's essential to note that each individual with ICRD may experience a unique combination of these signs and symptoms. If you suspect that your child or someone else may be affected by infantile cerebellar-retinal degeneration, consult with a qualified healthcare professional for proper evaluation and guidance.

References: [1] - Not applicable (search results did not provide relevant information) [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9

Diagnostic Tests for Infantile Cerebellar-Retinal Degeneration

Infantile cerebellar-retinal degeneration is a rare and severe genetic disorder that affects the development of the brain and eyes. Diagnostic tests

Unfortunately, there is no specific treatment available for infantile cerebellar-retinal degeneration (ICRD). According to search result [8], "No treatment other than supportive care is known and the progressive neurological deterioration often leads to death at an early age."

However, some studies suggest that certain medications may be associated with a lower incidence rate of ICRD. For example, a study mentioned in search result [7] found that users of bromocriptine and rotigotine had a lower incidence rate of ICRD.

It's essential to note that these findings are based on observational studies and do not establish a causal relationship between the medications and the reduced incidence of ICRD. Furthermore, the effectiveness of these medications in treating ICRD is unknown.

In summary, while there is no specific treatment available for ICRD, some medications may be associated with a lower incidence rate of the condition. However, more research is needed to confirm this finding and explore potential therapeutic options.

References:

• [7] Bromocriptine and rotigotine users had lower ICRD incidence rate.
• [8] No treatment other than supportive care is known for ICRD.

Infantile Cerebellar-Retinal Degeneration (ICRD): A Complex Neurological Condition

The differential diagnosis of infantile cerebellar-retinal degeneration (ICRD) is a broad and complex process, involving various neurological disorders that present with similar symptoms. According to [1], ICRD is a severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months.

Symptoms of ICRD

Individuals with ICRD typically develop symptoms around six months of age, including:

• Developmental delays
• Low muscle tone (hypotonia)
• Seizures
• Progressive cerebellar atrophy

These symptoms can be similar to those found in other neurodegenerative disorders, making differential diagnosis challenging. As noted in [3], the diagnostic odyssey for ICRD can be long and complex.

Differential Diagnosis

The differential diagnosis of ICRD includes various neurological disorders, such as:

• Lysosomal storage disorders
• Mitochondrial respiratory chain defects
• Carbohydrate glycosylation defects
• Infantile neuroaxonal dystrophy

These conditions can present with similar symptoms, making accurate diagnosis crucial. According to [13], degeneration of the cerebrum, cerebellum, and retina in infancy is part of the clinical spectrum of these disorders.

Importance of Accurate Diagnosis

Accurate diagnosis of ICRD is essential for providing appropriate treatment and management strategies. As noted in [11], a 4-year-old female patient with ICRD required a thorough diagnostic evaluation to determine the underlying cause of her symptoms.

In conclusion, the differential diagnosis of infantile cerebellar-retinal degeneration (ICRD) is a complex process that requires careful consideration of various neurological disorders. Accurate diagnosis is essential for providing appropriate treatment and management strategies.

References:

[1] by R Spiegel · 2012 · Cited by 121 — A defect in mitochondrial aconitase is associated with an infantile neurodegenerative disorder affecting mainly the cerebellum and retina. [3] by N Lail · 2023 · Cited by 1 — We describe the diagnostic odyssey of a 4-year-old female patient with profound global developmental delays, microcephaly, severe hypotonia, retinal dystrophy, ... [11] by R Spiegel · 2012 · Cited by 121 — The differential diagnosis of neurodegenerative disorders with atrophy of the cerebral and cerebellar cortex and cerebellar vermis is broad even in young age ... [13] Degeneration of the cerebrum, cerebellum, and retina in infancy is part of the clinical spectrum of lysosomal storage disorders, mitochondrial respiratory chain defects, carbohydrate glycosylation defects, and infantile neuroaxonal dystrophy.