hereditary spastic paraplegia 79B

Hereditary Spastic Paraplegia 79B (SPG79B) is a rare autosomal recessive progressive neurologic disorder characterized by the onset of spastic paraplegia and optic atrophy in the first decade of life [1]. This condition is marked by a slow, gradual, and progressive weakness and spasticity of the lower limbs [3].

Additional features of SPG79B may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment [2]. The symptoms of this disorder can vary in severity and progression, but they typically affect the lower extremities, leading to difficulties with walking and balance.

It's worth noting that SPG79B is a rare form of hereditary spastic paraplegia, and its exact prevalence is not well established. However, it is considered one of the many forms of this complex neurodegenerative disorder [4].

In terms of inheritance, SPG79B follows an autosomal recessive transmission mode, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to express the condition [6]. This can lead to a range of symptoms and complications, including spasticity, weakness, and cognitive impairment.

Overall, hereditary spastic paraplegia 79B is a rare and complex neurologic disorder that requires careful diagnosis and management. Early recognition and intervention are crucial in mitigating its effects and improving the quality of life for those affected [13].

Hereditary Spastic Paraplegia (HSP) 79B, also known as Spastic Paraplegia-79B (SPG79B), is a rare genetic disorder that affects the nervous system. The signs and symptoms of HSP 79B can vary from person to person, but here are some common ones:

• Spasticity: This is one of the primary symptoms of HSP 79B, characterized by stiffness or rigidity in the legs.
• Optic atrophy: Many people with HSP 79B experience progressive damage to the optic nerve, leading to vision loss and blindness.
• Peripheral neuropathy: Some individuals may develop peripheral neuropathy, a condition that affects the nerves outside the brain and spinal cord.
• Cerebellar ataxia: This symptom involves problems with coordination and balance, making it difficult to walk or maintain posture.
• Cognitive impairment: In some cases, HSP 79B can lead to cognitive decline, affecting memory, language, and other higher-level functions.

These symptoms typically begin in the first decade of life and progress over time. It's essential for individuals with HSP 79B to receive proper medical attention and care to manage their condition and slow down its progression.

References:

• [3] Spastic paraplegia-79B (SPG79B) is an autosomal recessive progressive neurologic disorder characterized by onset of spastic paraplegia and optic atrophy in the first decade of life. Additional features are variable, but may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment (summary by Rydning et al., 2017).
• [5] Symptoms and signs of hereditary spastic paraplegia include spastic leg paresis, with progressive gait difficulty, hyperreflexia, clonus, and extensor plantar responses. Sensation and sphincter function are usually spared. The arms may also be affected. Deficits are not localized to a spinal cord segment.
• [13] This also results in brisk reflexes, extensor plantar reflexes, muscle weakness, and variable bladder disturbances.

Hereditary Spastic Paraplegia (HSP) is a group of genetic conditions that primarily affect the legs, causing spastic paralysis. Diagnostic tests for HSP aim to confirm the diagnosis and rule out other potential causes.

Diagnostic Tests:

• Clinical Genetic Test: This test analyzes genes associated with HSP, such as SPAST, ATL1, SPG11, CYP7B1, among others [1]. A 75 gene panel is also available for patients with a clinical suspicion of spastic paraplegia [4].
• Next Generation Sequencing (NGS): This panel of 79 genes is intended for patients with a diagnosis or clinical suspicion of Hereditary Spastic Paraplegia [6].
• Electrophysiologic studies: These studies are useful for assessing peripheral nerve, muscle, dorsal column, and corticospinal tract involvement in patients with HSP [8].

Investigations:

• Neuroimaging: This can help rule out other conditions that may cause similar symptoms.
• Molecular genetic testing: This can provide laboratory confirmation of the diagnosis.

Diagnostic Procedures:

• The Ashworth Scale is a commonly used tool for objective measures of spasticity [10].

It's essential to note that diagnosis is typically made by clinical history, neurologic examination, investigations, and molecular genetic testing, with exclusion of alternative differential diagnoses [9].

Current Drug Treatments for Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) is a group of genetic conditions that cause muscle weakness and tightness in the legs. While there is no cure available, various drug treatments can help manage symptoms.

• Muscle Relaxants: Oral medications such as Baclofen, Tizanidine, Gabapentin/Pregabalin are prescribed to reduce spasticity.
• Botulinum Toxin Injections: Injecting botulinum toxin into affected muscles can provide relief from muscle spasms and stiffness.
• Baclofen: A voluntary muscle relaxant that helps relax muscles and reduce tone.
• Tizanidine: Used to treat nocturnal or intermittent spasms, as well as to manage lower limb spasticity.

These treatments aim to alleviate symptoms such as muscle weakness, tightness, and stiffness. However, it's essential to note that each individual may respond differently to these medications, and treatment plans should be tailored to the specific needs of the patient.

References:

• [5] Oral medications such as Baclofen, Tizanidine, Gabapentin/Pregabalin are prescribed as muscle relaxants to reduce spasticity.
• [8] Treatment · Baclofen – a voluntary muscle relaxant to relax muscles and reduce tone. · Tizanidine – to treat nocturnal or intermittent spasms (studies available)
• [14] Medications (muscle relaxants, botulinum toxin injections, baclofen) can help manage symptoms of hereditary spastic paraplegia.

Hereditary Spastic Paraplegia (HSP) 79B, also known as Spastic Paraplegia-79B (SPG79B), is a rare autosomal recessive progressive neurologic disorder. The differential diagnosis of HSP 79B involves excluding 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 numbness, weakness, and vision problems.
• Structural Abnormalities: Conditions affecting the spinal cord or brain, such as tethered cord syndrome or spinal cord compression, which can cause similar symptoms to HSP 79B.
• Adrenomyeloneuropathy: A rare genetic disorder that affects the adrenal glands and nervous system, causing symptoms such as weakness, numbness, and vision problems.
• Peripheral Neuropathy: A condition affecting the nerves outside the brain and spinal cord, which can cause symptoms such as numbness, tingling, and weakness in the limbs.

Key Features to Distinguish HSP 79B:

• Onset of Spastic Paraplegia: The primary feature of HSP 79B is the onset of spastic paraplegia, typically in the first decade of life.
• Optic Atrophy: Additional features may include optic atrophy, peripheral neuropathy, cerebellar ataxia, and cognitive impairment.

Differential Diagnosis:

The differential diagnosis of HSP 79B should also consider other conditions that present with similar symptoms, such as spastic diplegia, which can be treated with physical therapy. A comprehensive evaluation by a neurologist or geneticist is essential to accurately diagnose HSP 79B and rule out other potential causes.

References:

• [4] The differential diagnosis may include structural, inflammatory, infectious ... Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.
• [14] Spastic paraplegia-79B (SPG79B) is an autosomal recessive progressive neurologic disorder characterized by onset of spastic paraplegia and optic atrophy in the first decade of life. Additional features are variable, but may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment (summary by Rydning et al., 2017).