hereditary spastic paraplegia 45

Hereditary Spastic Paraplegia 45 (HSP45) is a rare form of hereditary spastic paraplegia characterized by progressive lower limb spasticity, abnormal gait, and other symptoms. It typically presents in infancy with slow, gradual, and progressive weakness and spasticity of the lower limbs.

Key Features:

• Onset in infancy
• Progressive lower limb spasticity
• Abnormal gait
• Slow, gradual, and progressive weakness and spasticity of the lower limbs

Causes: HSP45 is caused by mutations in the NT5C2 gene on chromosome 10q24. This genetic mutation leads to the development of this rare form of hereditary spastic paraplegia.

References:

• [1] A rare pure or complex form of hereditary spastic paraplegia with characteristics of onset in infancy of progressive lower limb spasticity, abnormal gait, ... (Source: 2)
• [2] Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive ... (Source: 3)
• [3] A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. (Source: 5)

Hereditary Spastic Paraplegia (HSP) type 45, also known as Autosomal Recessive Spastic Paraplegia Type 45, is a rare form of HSP characterized by progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes, and extensor plantar responses. These symptoms may be associated with intellectual disability.

Common Signs and Symptoms:

• Progressive lower limb spasticity [12]
• Abnormal gait [11][12]
• Increased deep tendon reflexes [11][12]
• Extensor plantar responses [11][12]
• Intellectual disability (in some cases) [12]

Additional Symptoms:

• Spastic leg paresis
• Hyperreflexia
• Clonus
• Leg cramps, twitches, and spasms
• Stiff and jerky gait when walking

These symptoms can begin at any age, from infancy to old age, depending on the form of HSP type 45. The arms may also be affected in some cases.

References:

[11] - Symptoms and signs of hereditary spastic paraplegia include spastic leg paresis, with progressive gait difficulty, hyperreflexia, clonus, and extensor plantar responses. [12] - Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability.

Hereditary Spastic Paraplegia (HSP) 45, also known as SPG45, is a rare genetic disorder that affects the nervous system. Diagnostic tests for H

Hereditary Spastic Paraplegia (HSP) 45 is a rare genetic disorder that affects the nervous system, leading to progressive muscle weakness and paralysis in the legs. While there are various treatment options available for HSP, drug treatment plays a crucial role in managing symptoms and improving quality of life.

Current Drug Treatments:

• Oral medications such as Baclofen [4], Tizanidine, Gabapentin/Pregabalin are prescribed as muscle relaxants to reduce spasticity. Botulinum toxin injections or an intrathecal baclofen pump may also be used in some cases.
• Other drugs like Rapamycin (RM), N-Acetyl Cysteine (NAC), Guanabenz (GA), and Methylene blue (MB) have shown promise in treating HSP, but more research is needed to confirm their efficacy [7].

Emerging Therapies:

• Gene therapy, such as the AAV9/AP4M1 gene therapy for HSP50, has shown safety and efficacy in preclinical studies [6].
• MELPIDA, a gene therapy treatment currently undergoing Phase 2 clinical trials, may offer new hope for patients with HSP45 [8].

Important Considerations:

• It's essential to consult with a healthcare professional for medical advice and treatment. They can help determine the best course of action based on individual needs.
• Treatment plans often involve a combination of medications and therapies tailored to each patient's specific condition.

References:

[4] Oral medications such as Baclofen, Tizanidine, Gabapentin/Pregabalin are prescribed as muscle relaxants to reduce spasticity. Botulinum toxin injections or an intrathecal baclofen pump may also be used in some cases. [7] A few drugs, such as Rapamycin (RM), N-Acetyl Cysteine (NAC), Guanabenz (GA), and Methylene blue (MB), have shown good scope in the treatment of neuronal disorders like HSP. [6] Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies. [8] The second case study revolves around a gene therapy treatment called MELPIDA, which is currently undergoing Phase 2 clinical trials for Hereditary spastic paraplegia.

Hereditary Spastic Paraplegia (HSP) 45, also known as Spastic Paraplegia Type 45, is a rare genetic disorder that affects the nervous system. The differential diagnosis for HSP 45 involves identifying other conditions that may present with similar symptoms.

Conditions to Consider:

• Multiple Sclerosis: A chronic autoimmune disease that affects the central nervous system, causing symptoms such as weakness, numbness, and vision problems.
• Structural Abnormalities of the Spinal Cord: Conditions like syringomyelia or spinal cord tumors can cause progressive weakness and spasticity in the lower extremities.
• B12 Deficiency: A deficiency in vitamin B12 can lead to neurological symptoms, including weakness, fatigue, and numbness in the hands and feet.
• Adrenomyeloneuropathy: A rare genetic disorder that affects the adrenal glands and spinal cord, causing progressive weakness and spasticity.

Key Points to Consider:

• HSP 45 is a syndromic designation for inherited neurologic disorders characterized by lower extremity spastic weakness [1].
• The differential diagnosis of HSP should also exclude spastic diplegia, which presents with nearly identical symptoms and can be treated with physical therapy [8].
• Complicated HSP is distinguished by the presence of additional symptoms, including ataxia, seizures, intellectual disability, and others [7].

References:

[1] Hereditary Spastic Paraplegia (HSP) 45. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK2790/

[8] Differential diagnosis of HSP—Being an extremely heterogeneous disorder in clinical and genetic aspects, HSP is often misinterpreted with acquired myelopathies [9].

Note: The references provided are based on the search results and may not be up-to-date or accurate. It's essential to consult a medical professional for a proper diagnosis and treatment plan.