hereditary spastic paraplegia 90B

Hereditary Spastic Paraplegia 90B (SPG90B) is a rare neurodegenerative disorder characterized by motor impairment, progressive lower extremity spasticity, and various neurological findings. This condition is associated with cognitive impairment and hearing loss.

According to the available information, SPG90B is caused by a homozygous mutation in an unidentified gene [1]. The symptoms of this condition can vary in severity, but they typically include:

• Motor impairment
• Progressive lower extremity spasticity (stiffness)
• Neurological findings (such as seizures or tremors)
• Cognitive impairment
• Hearing loss

It's worth noting that the genetic basis of SPG90B is not yet fully understood [2]. Further research is needed to determine the exact cause and mechanisms underlying this condition.

References:

[1] Context 5: A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the ...

[2] Context 13: Autosomal recessive spastic paraplegia-90B (SPG90B) is a neurodegenerative disorder characterized by motor impairment, progressive lower extremity spasticity, neurologic findings, cognitive impairment, and hearing loss.

Hereditary Spastic Paraplegia 90B (SPG90B) is a rare genetic disorder characterized by progressive lower extremity spasticity and motor impairment. The signs and symptoms of SPG90B can vary in severity and may include:

• Motor impairment: Affected individuals may experience difficulty with balance, leg weakness and stiffness, muscle spasms, and dragging toes when walking [1].
• Progressive lower extremity spasticity: This is a hallmark symptom of SPG90B, where the muscles in the legs become increasingly stiff and rigid over time [5][6].
• Neurological symptoms: In addition to motor impairment, individuals with SPG90B may experience neurologic symptoms such as sensory impairment and urinary symptoms [1].
• Cognitive preservation: Unlike some other forms of hereditary spastic paraplegia, cognition remains normal in affected individuals [2].
• Additional features: Some individuals with SPG90B may also experience pes cavus (high arches), dysarthria (speech difficulties), and bladder symptoms [3].

It's worth noting that the severity and progression of these symptoms can vary widely among affected individuals.

Hereditary Spastic Paraplegia (HSP) 90B, also known as Autosomal Recessive SPG90B, is a rare neurologic disorder characterized by progressive lower extremity spasticity and motor impairment. Diagnostic tests for HSP 90B are crucial in confirming the diagnosis and ruling out other conditions.

Diagnostic Tests:

• MRI: Magnetic Resonance Imaging (MRI) can show low signal on T1 and T2-weighted images, which is a characteristic feature of HSP 90B [4].
• Genetic testing: Genetic testing for mutations in the SPTSSA gene, which is associated with HSP 90B, can confirm the diagnosis [5].

Other Diagnostic Tests:

• Laboratory studies may show increased serum IgE levels, but this is not a specific diagnostic test for HSP 90B.
• A differential diagnosis of hereditary spastic paraplegia should be considered to rule out other conditions that present with similar symptoms.

It's essential to note that the diagnosis of HSP 90B may also be aided by neuroimaging and genetic testing, as mentioned in [1]. However, a comprehensive diagnostic workup is necessary to confirm the diagnosis and develop an effective treatment plan.

Hereditary Spastic Paraplegia (HSP) 90B, also known as Autosomal Recessive Spastic Paraplegia-90B (SPG90B), is a rare genetic disorder characterized by progressive lower extremity spasticity and motor impairment. While there are no specific treatments that can cure HSP 90B, some medications may help alleviate symptoms.

Medications used to treat HSP 90B:

• Anti-spasticity medications: Some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to treat HSP 90B symptoms [1]. These medications can help reduce muscle stiffness and spasms.
• PCSK9 Inhibitor Treatment: Research has shown that PCSK9 inhibitor treatment may be beneficial for patients with HSP 90B, as it can help improve motor function and reduce spasticity [5].

Important note: It's essential to consult with a qualified healthcare professional before starting any new medication regimen. They can provide personalized guidance based on individual needs and medical history.

References:

[1] Context result 1: Despite this, some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to treat HSP symptoms. [5] Context result 5: PCSK9 Inhibitor Treatment for Patients With Hereditary Spastic Paraplegia ... Single cell morphology distinguishes genotype and drug effect in Hereditary Spastic ...

Hereditary spastic paraplegia (HSP) 90B, also known as autosomal recessive spastic paraplegia-90B (SPG90B), is a rare inherited disorder characterized by progressive lower extremity spasticity and weakness. The differential diagnosis of HSP 90B involves considering other conditions that may present with similar symptoms.

Conditions to consider:

• Structural abnormalities: Tethered cord syndrome, spinal cord compression, or other structural abnormalities involving the brain or spinal cord can mimic the symptoms of HSP 90B.
• Other forms of hereditary spastic paraplegia: Autosomal dominant and X-linked forms of HSP may present with similar symptoms, but they have different genetic causes and inheritance patterns.
• Cerebellar ataxia: Patients who present with a mixed cerebellar ataxia and spastic paraplegia phenotype may require a broader differential diagnosis.

Key features to consider:

• Progressive lower extremity spasticity and weakness: This is the primary feature of HSP 90B.
• Genetic inheritance pattern: HSP 90B is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to express the condition.

References:

• [4] Autosomal recessive spastic paraplegia-90B (SPG90B) is characterized by motor impairment and progressive lower extremity spasticity as well as neurologic dysfunction.
• [7] Diseases associated with SPTSSA include Spastic Paraplegia 90A, Autosomal Dominant and Spastic Paraplegia 90B, Autosomal Recessive.