neurodevelopmental disorder with spastic paraplegia and microcephaly

Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly (NEDSPM)

NEDSPM is an autosomal recessive syndrome characterized by delayed psychomotor development, progressive microcephaly, axial hypotonia, and later onset of spasticity. The disorder is associated with poor overall growth, and affected individuals may experience a range of symptoms including:

• Delayed walking
• Moderately to severely impaired intellectual development
• Global developmental delay
• Spastic paraplegia
• Progressive microcephaly

Key Features:

• Autosomal recessive inheritance pattern
• Delayed psychomotor development with delayed walking
• Progressively worsening spasticity and microcephaly
• Associated with poor overall growth and intellectual impairment

References:

• [1] Characterized by delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and progressive microcephaly. (Source: #6)
• [2] Delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and spastic paraplegia. (Source: #7)
• [3] Autosomal recessive syndrome characterized by delayed psychomotor development, progressive microcephaly, axial hypotonia, and later onset of spasticity. (Source: #1)

Based on the search results, here are the signs and symptoms of a neurodevelopmental disorder with spastic paraplegia and microcephaly:

Common Signs and Symptoms:

• Poor overall growth [1]
• Progressive microcephaly (small head size) [3][7][8]
• Axial hypotonia (low muscle tone in the trunk and limbs) [3][7]
• Oromotor dysfunction with drooling [3][7]
• Joint problems [3]

Additional Symptoms:

• Short stature [2]
• Late walking and later loss of ability to walk independently [2]
• Involuntary muscle movements (spasticity) starting in the lower limbs, which can progress to the upper extremities [5][6]
• Spasticity may lead to partial or total loss of use of all four limbs and torso (tetraplegia) [6]
• Affected individuals may show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity [8]

Other Possible Symptoms:

• Verbal dyspraxia (difficulty with speech)
• Hypogenitalism (underdeveloped genital area)
• Macrocephaly (large head size) in some cases
• Sensorineural hearing loss
• Dystonic movements and ataxia (loss of coordination) in the upper limbs [9]

Please note that these symptoms may vary in severity and presentation across individuals with this neurodevelopmental disorder.

Based on the search results, it appears that there are several diagnostic tests available for neurodevelopmental disorders with spastic paraplegia and microcephaly.

• Exome sequencing is a recommended first-tier clinical diagnostic test for individuals with neurodevelopmental disorders, including those with spastic paraplegia and microcephaly [9]. This test can help identify genetic mutations that may be causing the condition.
• A genetic test guide suggests that exome sequencing and other genetic tests can help diagnose inherited neurological conditions, such as delayed mental development, neurodegeneration, learning disabilities, movement disorders, and spastic paraplegia [6].
• The Spastic Paraplegia Panel offered by Blueprint Genetics is ideal for patients with a clinical suspicion of spastic paraplegia, which may include individuals with neurodevelopmental disorder with microcephaly and spastic paraplegia [2].

It's worth noting that an accurate history and physical examination are also important in determining the diagnosis of atypical cerebral palsy, which may be related to this condition [7]. Additionally, exome sequencing is recommended as a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders, including those with spastic paraplegia and microcephaly [9].

References: [2] - Blueprint Genetics' Spastic Paraplegia Panel Is ideal for patients with a clinical suspicion of spastic paraplegia. [6] - Our genetic tests can help diagnose inherited neurological conditions, such as delayed mental development, neurodegeneration, learning disabilities, movement disorders, and spastic paraplegia. [7] - by MA Gholizadeh · 2022 · Cited by 4 — Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) (OMIM#617481) is a rare autosomal recessive disorder ... [9] - by A Moreno-De-Luca · 2021 · Cited by 100 — Exome sequencing is currently recommended as a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.

Unfortunately, there isn't much information available on the specific drug treatment for Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly (NEDSPM). However, I can provide some general information on the treatment of this condition.

Treatment Overview

The treatment of NEDSPM is largely supportive, focusing on managing symptoms and improving quality of life. As there isn't a specific cure for this condition, treatment plans are tailored to each individual's needs (10).

Symptom Management

• Spasticity: Treatment options may include physical therapy, occupational therapy, and pharmacological interventions such as muscle relaxants or antispasmodics (9).
• Microcephaly: Supportive care may involve speech and language therapy, cognitive stimulation, and adaptive equipment to facilitate daily activities.
• Developmental delays: Early intervention programs, including special education services, can help address developmental delays.

Emerging Therapies

While there isn't specific information on drug treatment for NEDSPM, researchers are exploring various therapeutic approaches, such as gene therapy (7) and adeno-associated virus (AAV)-mediated gene therapy (7). These emerging therapies hold promise for treating the underlying genetic causes of this condition.

Current Research

The Cure SPG50 Foundation is actively working to develop a treatment for Spastic Paraplegia Type 50, which shares some similarities with NEDSPM (8). This research may provide valuable insights into potential therapeutic strategies for NEDSPM in the future.

Please note that these findings are based on limited information available in the search results. If you have any further questions or would like me to explore this topic more deeply, feel free to ask!

Based on the search results, it appears that there are several neurodevelopmental disorders that can present with spastic paraplegia and microcephaly as part of their clinical features.

• Hereditary Spastic Paraplegias (HSP): HSP is a rare neurodegenerative disorder characterized by progressive lower limb spasticity. According to search result [2], the differential diagnosis of HSP includes multiple sclerosis, structural abnormalities involving the spinal cord, B12 deficiency, adrenomyeloneuropathy, and other conditions.
• CTNNB1 syndrome: This is an extremely rare genetic neurodevelopmental disorder caused by changes in the CTNNB1 gene. Search result [10] mentions that clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia, and midline defects.
• PQBP1-related disorders: According to search result [8], PQBP1 has previously been associated with a neurodevelopmental disorder characterized by spastic paraplegia, microcephaly, and other features.

Other conditions that may be considered in the differential diagnosis of neurodevelopmental disorders with spastic paraplegia and microcephaly include:

• Cerebral palsy: Search result [9] mentions that many patients with childhood-onset HSP might be mistakenly diagnosed with cerebral palsy or other neurodevelopmental disorder.
• Structural abnormalities involving the spinal cord: This can include conditions such as syringomyelia, tethered cord syndrome, and others.

It's worth noting that the differential diagnosis of these disorders can be complex and may require a comprehensive evaluation by a multidisciplinary team of healthcare professionals.