hereditary spastic paraplegia 77

Hereditary Spastic Paraplegia (HSP) type 77, also known as Autosomal Recessive Spastic Paraplegia Type 77 (ARSPG77), is a rare and complex neurodegenerative disorder.

Key Features:

• Age of Onset: Infancy to childhood
• Progression: Slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia, and various muscle abnormalities
• Muscle Abnormalities: Weakness, hypotonia, intention tremor, and amyotrophy (muscle wasting)
• Ocular Abnormalities: Strabismus (crossed eyes) may be present in some cases

Other Associated Features:

• Childhood seizures
• Developmental delay
• Mitochondrial dysfunction

Genetic Transmission: ARSPG77 is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Prevalence and Impact: HSP type 77 is a rare disorder, with limited information available on its prevalence. However, it can have a significant impact on an individual's quality of life, affecting their motor skills, muscle strength, and overall well-being.

References:

• [1] OMIM Spastic paraplegia-77 (SPG77)
• [2] Vernon et al., 2015
• [3] Vantroys et al., 2017
• [4] Yang et al., 2016

Hereditary Spastic Paraplegia (HSP) 77, also known as Autosomal

Hereditary Spastic Paraplegia (HSP) 77, also known as Autosomal Recessive Spastic Paraplegia Type 77, is a rare genetic disorder characterized by slowly progressive lower limb spasticity. Diagnostic tests for HSP 77 are crucial for accurate diagnosis and management of the condition.

Molecular Genetic Testing The most common diagnostic test for HSP 77 is molecular genetic testing, which analyzes the genes associated with the condition. This test can identify disease-causing variants in the SPG77 gene, confirming a diagnosis of HSP 77 [4][5].

Clinical History and Neurological Examination A thorough clinical history and neurological examination are essential for diagnosing HSP 77. Medical and family history, as well as neurological and physical examinations, can help identify symptoms such as lower limb spasticity, weakness, and gait difficulties [8][9].

Investigations and Neuroimaging Additional investigations and neuroimaging studies may be performed to rule out other conditions that could cause similar symptoms. These tests include MRI or CT scans of the brain and spine, electromyography (EMG), and nerve conduction studies [9].

Genetic Counseling Genetic counseling is an essential part of the diagnostic process for HSP 77. It can help families understand the genetic basis of the condition, recurrence risk assessment, and familial screening [13][14].

In summary, diagnostic tests for Hereditary Spastic Paraplegia (HSP) 77 include molecular genetic testing, clinical history and neurological examination, investigations, neuroimaging studies, and genetic counseling. These tests can help confirm a diagnosis of HSP 77 and provide essential information for management and recurrence risk assessment.

Hereditary Spastic Paraplegia (HSP) 77, also known as Autosomal Recessive Spastic Paraplegia type 77, is a rare genetic disorder characterized by slowly progressive lower limb spasticity. While there are no specific treatments that can cure HSP 77, various medications have been explored to manage its symptoms.

Medications used in the treatment of HSP 77:

• Antispasmodics: Capsules comprising tizanidine and baclofen are given orally to control muscle spasms and stiffness [3][7]. Oxybutynin is also prescribed to alleviate urinary urgency and infection [3].
• Other medications: Gabapentin, progabide, dalfampridine, botulinum toxin, L-Dopa, and cholesterol-lowering drugs have been used in some cases to manage symptoms [1][6].

Emerging treatments:

• Gene therapy: A gene therapy treatment called MELPIDA is currently undergoing Phase 2 clinical trials for HSP 77 [9].
• Pharmacological treatment: Antispastic medications such as baclofen and tizanidine are first used to reduce spasticity, followed by other treatments like Rapamycin (RM), N-Acetyl Cysteine (NAC), Guanabenz (GA), and Methylene blue (MB) [7][8].

Important note:

• The effectiveness of these medications may vary depending on the individual case, and more research is needed to fully understand their impact on HSP 77.
• It's essential for individuals with HSP 77 to consult with a healthcare professional to discuss the best treatment options tailored to their specific needs.

References:

[1] M Bellofatto (2019) - The drugs used in the 17 articles on pharmacological therapy were: gabapentin, progabide, dalfampridine, botulinum toxin, L-Dopa, cholesterol-lowering drugs...

[3] A Meyyazhagan (2022) - Capsules comprising tizanidine and baclofen are given orally as antispasmodics in HSP conditions, and oxybutynin is given to control urine urgency and infection...

[6] M Bellofatto (2019) - The drugs used in the 17 articles on pharmacological therapy were: gabapentin, progabide, dalfampridine, botulinum toxin, L-Dopa, cholesterol-lowering drugs...

[7] S Maccora (2024) - Pharmacological treatment takes advantage of antispastic medications such as baclofen and tizanidine which are first used to reduce spasticity.

[8] A Meyyazhagan (2022) - 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...

[9] MR Sebastiano (2024) - The second case study revolves around a gene therapy treatment called MELPIDA, which is currently undergoing Phase 2 clinical trials for Hereditary spastic...

Hereditary Spastic Paraplegia (HSP) 77, also known as Spastic Paraplegia-77 (SPG77), is a rare genetic disorder that affects the nervous system. The differential diagnosis for HSP 77 involves considering various conditions that can present with similar symptoms.

Conditions to Consider:

• Structural abnormalities involving the brain or spinal cord [1]
• Childhood seizures, developmental delay, and mitochondrial dysfunction [2]
• Other forms of hereditary spastic paraplegia (HSP), such as autosomal dominant, autosomal recessive, and X-linked HSP [6]
• Amyotrophic lateral sclerosis (ALS) [13]

Key Features:

• Early-childhood onset of spasticity affecting the lower limbs
• Progressive gait difficulties
• Possible association with childhood seizures, developmental delay, and mitochondrial dysfunction

Important Considerations:

• The differential diagnosis for HSP 77 can be challenging due to its heterogeneous presentation [12]
• A thorough evaluation of clinical features, imaging studies, and genetic testing is essential to differentiate HSP 77 from other conditions [14]

References:

[1] - Context result 3 [2] - Context result 2 [6] - Context result 6 [12] - Context result 12 [13] - Context result 13 [14] - Context result 14