hereditary spastic paraplegia 90A

Hereditary Spastic Paraplegia 90A (SPG90A) is a rare inherited disorder characterized by motor impairment and progressive lower extremity spasticity [4]. This condition is caused by a heterozygous mutation in the responsible gene, leading to a range of symptoms including:

• Motor impairment: Individuals with SPG90A may experience weakness or paralysis in their legs, making it difficult to walk or stand [6].
• Progressive lower limb spasticity: As the condition progresses, individuals may experience increasing stiffness and spasms in their leg muscles [4][8].

It's worth noting that hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles [1][7]. SPG90A is a specific subtype within this larger category.

References: [1] Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. [4] Autosomal dominant spastic paraplegia-90A (SPG90A) is characterized by motor impairment and progressive lower extremity spasticity as well as neurologic ... [6] A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has material basis in heterozygous mutation in the ... [7] Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. [8] A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in ...

Hereditary Spastic Paraplegia (HSP) is a rare genetic disorder that affects the nervous system, causing progressive weakness and stiffness in the legs. The signs and symptoms of HSP can vary widely among individuals, but common manifestations include:

• Progressive Lower Limb Weakness: Gradual weakening of the muscles in the lower limbs, making walking and balance difficult [10].
• Muscular Spasticity: Individuals with HSP commonly experience lower extremity weakness, spasticity, and muscle stiffness [12].
• Weakness and Stiffness: The main symptoms of pure HSP are progressive weakness and stiffness in the leg muscles, which can lead to problems walking, such as stumbling and difficulty maintaining balance [3, 4].
• Exaggerated Reflexes (Hyperreflexia): Affected individuals may also experience exaggerated reflexes, a decreased ability to feel vibrations, and reduced bladder control [6, 7].
• Urinary Urgency and Frequency: Other common symptoms of HSP include urinary urgency and frequency, which can be distressing for those affected [7].

It's essential to note that the progression and severity of HSP symptoms can vary significantly among individuals. Some people may experience mild symptoms, while others may have more severe manifestations.

References:

[3] Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. [4] The main symptoms of pure hereditary spastic paraplegia are: ... People with the condition may develop leg stiffness and problems walking, such as stumbling and ... [6] Jul 30, 2024 — Affected individuals may also experience exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, and reduced bladder control. [7] Other common symptoms of HSP are urinary urgency and frequency, hyperactive reflexes, difficulty with balance, clonus, Babinski's sign, diminished vibration ... [10] Symptoms of Hereditary Spastic Paraplegia. The hallmark of HSP is the progressive spasticity and weakness in the legs. However, the symptoms can vary widely among individuals and may include: Progressive Lower Limb Weakness. [12] Hereditary Spastic Paraplegia (HSP) is a medical term for a condition that affects muscle function. The terms spastic and paraplegiacomes from ... What are the signs and symptoms of HSP? Muscular spasticity

Hereditary spastic paraplegia (HSP) is a group of genetic conditions that cause muscle weakness and tightness in the legs, which can be progressive. To diagnose HSP, a combination of clinical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of alternative differential diagnoses are used.

Diagnostic Tests for Hereditary Spastic Paraplegia:

• Clinical History and Neurological Examination: A thorough medical and family history is taken to understand the symptoms and progression of the condition. A neurological exam is also performed to assess muscle strength, reflexes, and coordination.
• Genetic Testing: Genetic testing can identify mutations in specific genes associated with HSP. This includes a 75-gene panel that includes assessment of non-coding variants, which is ideal for patients with a clinical suspicion of spastic paraplegia [4].
• Molecular Genetic Testing: This involves analyzing DNA samples to detect genetic mutations that cause HSP. A multi-gene panel can analyze 103 genes, including the most common genetic causes of Hereditary Spastic Paraplegia (HSP) [2].
• Neuroimaging: Imaging tests such as MRI or CT scans may be performed to rule out other conditions that may cause similar symptoms.
• Blood Tests: Blood samples are taken for various tests, including a blood test in a lavender top EDTA tube, which is stable for 5-7 days [9].

Other Diagnostic Tools:

• Ashworth Scale: This is the most commonly administered tool for objective measures of spasticity. It assesses muscle tone and stiffness.
• Comprehensive Panel: The Invitae Hereditary Spastic Paraplegia Comprehensive Panel analyzes genes associated with HSP, providing a comprehensive test for the genetic causes of HSP [10].

It's essential to note that diagnosis is often based on a combination of these tests and a thorough clinical evaluation. A healthcare provider will work with you to determine the best course of action for your specific situation.

References:

[1] Context 1 [2] Context 2 [4] Context 4 [9] Context 9 [10] Context 10

Hereditary Spastic Paraplegia (HSP) is a group of rare genetic disorders that affect the nervous system, leading to progressive muscle weakness and paralysis in the legs. While there is no cure for HSP, various drug treatments can help manage symptoms and improve quality of life.

Medications Used:

• Oral medications such as Baclofen, Tizanidine, Gabapentin/Pregabalin are commonly prescribed as muscle relaxants to reduce spasticity [4].
• Botulinum toxin injections or anesthetics may be used to temporarily relieve symptoms [4].

Emerging Treatments:

• Gene replacement therapy has been explored as a potential treatment for HSP, with a road map established for individualized treatment [8].
• A gene therapy treatment called MELPIDA is currently undergoing Phase 2 clinical trials for Hereditary spastic paraplegia [9].

Other Therapeutic Options:

• Rapamycin (RM), N-Acetyl Cysteine (NAC), Guanabenz (GA), and Methylene blue (MB) have shown promise in treating neuronal disorders, including HSP [6].
• Cholesterol-lowering drugs, L-Dopa, gabapentin, progabide, dalfampridine, and botulinum toxin are among the medications used to treat spasticity associated with HSP [2][7].

It's essential to note that each individual's response to treatment may vary, and a comprehensive treatment plan should be developed in consultation with a healthcare professional.

Hereditary Spastic Paraplegia (HSP) 90A, also known as SPG10, is a subtype of HSP that affects the corticospinal tracts. When diagnosing this condition, it's essential to consider its differential diagnosis.

The differential diagnosis for HSP 90A includes:

• Multiple Sclerosis: This autoimmune disease can cause similar symptoms, such as spasticity and weakness in the lower extremities [7].
• Structural abnormalities involving the spinal cord: Conditions like syringomyelia or tethered cord syndrome can mimic the symptoms of HSP 90A [7].
• B12 deficiency: A vitamin B12 deficiency can lead to neurological symptoms, including weakness and spasticity in the lower limbs [7].
• Adrenomyeloneuropathy (AMN): This rare genetic disorder affects the adrenal glands and spinal cord, causing symptoms similar to HSP 90A [7].

It's also worth noting that patients with a mixed cerebellar ataxia and spastic paraplegia phenotype may present a particular diagnostic challenge for HSP 90A, as this subtype can exhibit varying degrees of neurological impairment [10].

References: [7] - The differential diagnosis includes multiple sclerosis, structural abnormalities involving the spinal cord, B12 deficiency, adrenomyeloneuropathy (AMN) and ... [10] - Patients who present with a mixed cerebellar ataxia and spastic paraplegia phenotype represent a particular diagnostic challenge, as the ...