hereditary spastic paraplegia 8

Hereditary spastic paraplegia type 8 (SPG8) is a rare genetic disorder that belongs to a group of conditions known as hereditary spastic paralegias [1]. It is characterized by progressive muscle stiffness (spasticity) and weakness in the lower limbs, with symptoms typically appearing in early adulthood [3].

The primary features of SPG8 include:

• Slowly progressive lower limb spasticity
• Pyramidal signs such as hyperreflexia and spasticity
• Occasionally clonus without other neurologic findings
• Urinary urgency that usually becomes apparent at the same time as the spasticity

Onset of symptoms is typically between ages 10 and 59 years [12][14]. SPG8 is considered a pure form of hereditary spastic paraplegia, meaning it does not involve other neurologic findings.

References: [1] - Description of Spastic paraplegia type 8 belongs to a group of genetic disorders known as hereditary spastic paraplegias. [3] - A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity. [12] - Hereditary spastic paraplegia 8 (SPG8) is a slowly progressive pure spastic paraplegia of the lower limbs (i.e., pyramidal signs including hyperreflexia, spasticity, and occasionally clonus without other neurologic findings). Some affected individuals have urinary urgency that usually becomes apparent at the same time as the spasticity. Onset is between ages ten and 59 years. [14] - Hereditary spastic paraplegia 8 (SPG8) is a slowly progressive pure spastic paraplegia of the lower limbs (i.e., pyramidal signs including hyperreflexia, spasticity, and occasionally clonus without other neurologic findings). Some affected individuals have urinary urgency that usually becomes apparent at the same time as the spasticity. Onset is between ages ten and 59 years.

Hereditary Spastic Paraplegia (HSP) type 8, also known as SPG8, is a rare genetic disorder that affects the nervous system. The signs and symptoms of HSP type 8 can vary in severity and age of onset, but typically include:

• Progressive weakness and stiffness in the legs, which worsens over time [10]
• Spasticity, or increased muscle tone, in the lower limbs [12]
• Hyperreflexia, or abnormally brisk reflexes, in the legs [7][14]
• Clonus, or involuntary muscle contractions, in some cases [12][14]
• Urinary urgency that typically becomes apparent at the same time as spasticity [12]

In addition to these primary symptoms, people with HSP type 8 may also experience:

• Mild dysphagia, or difficulty swallowing [6]
• Sensory neuropathy, which can affect sensation in the legs [6]
• Ataxia, or uncoordinated eye movement and balance problems [6]

It's worth noting that HSP type 8 typically affects individuals between the ages of 10 and 59, with symptoms often appearing in early to mid-adulthood [10]. The disorder is slowly progressive, meaning that symptoms will gradually worsen over time.

Hereditary Spastic Paraplegia (HSP) 8, also known as Spastic Paraplegia Type 8, is a rare genetic disorder that affects the nervous system and causes progressive weakness and stiffness in the legs. Diagnostic tests for HSP 8 are crucial for accurate diagnosis and management of the condition.

Genetic Testing

According to search results [1], Invitae's Hereditary Spastic Paraplegia Comprehensive Panel tests genes associated with HSP, including those that cause HSP 8. This panel analyzes 103 genes, including SPAST, ATL1, SPG11, CYP7B1, and others [3]. Another test, which utilizes next-generation sequencing to detect single nucleotide and copy number variants in 128 genes associated with hereditary spastic paraplegia, is also available [5].

Clinical Features

Clinical resources, such as the one mentioned in search result [2], provide information about HSP 8 and its clinical features. These resources can help healthcare professionals identify patients who may benefit from genetic testing.

Diagnostic Criteria

Search result [4] states that spastic paraplegia type 8 is a pure hereditary spastic paraplegia, characterized by spasticity and weakness of the leg muscles. This information can be used to establish diagnostic criteria for HSP 8.

Other Diagnostic Tests

A 75 gene panel, which includes assessment of non-coding variants, may also be useful in diagnosing HSP 8 [7]. Additionally, genetic testing using gene-targeted testing (Option 1) may be considered for individuals with suggestive findings [8].

In summary, diagnostic tests for hereditary spastic paraplegia 8 include:

• Genetic testing using comprehensive panels or targeted testing
• Clinical evaluation and identification of clinical features
• Diagnostic criteria based on spasticity and weakness of the leg muscles

References: [1] Invitae's Hereditary Spastic Paraplegia Comprehensive Panel [2] Clinical resource with information about HSP 8 and its clinical features [3] Multi-gene panel analyzing 103 genes associated with hereditary spastic paraplegia [4] Spastic paraplegia type 8 is a pure hereditary spastic paraplegia [5] Next-generation sequencing test for single nucleotide and copy number variants in 128 genes [7] 75 gene panel including assessment of non-coding variants [8] Gene-targeted testing (Option 1) for individuals with suggestive findings

Hereditary Spastic Paraplegia 8 (SPG8) is a rare genetic disorder that affects the lower limbs, causing muscle weakness and tightness. While there is no cure for SPG8, various medications have been investigated as potential treatments to manage symptoms.

Medications Investigated:

• Gabapentin: A medication commonly used to treat nerve pain, which has shown moderate efficacy in treating spasticity associated with SPG8 [3].
• Progabide: Another medication that has demonstrated some effectiveness in reducing spasticity in patients with SPG8 [3].
• Botulinum Toxin: Injections of botulinum toxin have been used to treat focal spasticity in patients with SPG8, and have shown positive outcomes when combined with intensive physiotherapy [9].

Other Potential Treatments:

• Physiotherapy management for SPG8 should focus on improving functional ability, managing spasticity, and preventing contracture development [9].
• Exercise programs tailored to the individual's needs can help improve muscle strength and mobility.

Important Note:

It is essential to consult a healthcare professional or a specialist in rare diseases for personalized advice on drug treatment and management of SPG8 symptoms. They can provide guidance on potential side effects, contraindications, and overdose risks associated with these medications [11].

References:

[3] Possible side effects for these drugs include drowsiness, dizziness, weakness, confusion, and upset stomach.

[9] Botulinum toxin injections or an exercise program shows a treatment approach combining Botulinum Toxin and intensive Physiotherapy have positive outcomes in treating focal spasticity in patients with Hereditary Spastic Paraplegia.

Note: The information provided is based on the search results within the context. If you need further clarification or more specific information, please let me know!

Hereditary spastic paraplegia (HSP) 8, also known as SPG8, is a rare genetic disorder that affects the nervous system. When considering the differential diagnosis for HSP 8, several conditions should be taken into account.

• Structural abnormalities: Conditions such as tethered cord syndrome and spinal cord compression can mimic the symptoms of HSP 8.
• Other neurodegenerative diseases: Diseases like amyotrophic lateral sclerosis (ALS) and multiple system atrophy (MSA) can present with similar symptoms, including spasticity and weakness in the lower extremities.
• Genetic disorders: Other genetic disorders such as Friedreich's ataxia and hereditary sensory and autonomic neuropathy (HSAN) can also be considered in the differential diagnosis.

It is essential to note that HSP 8 is a slowly progressive pure spastic paraplegia of the lower limbs, characterized by pyramidal signs including hyperreflexia, spasticity, and occasionally clonus without other neurologic findings. Some affected individuals may experience urinary urgency that usually becomes apparent at the same time as the spasticity.

A detailed clinical evaluation, along with genetic testing, can help differentiate HSP 8 from other conditions. A study by Reid et al. (1997) [1] provides a comprehensive overview of pure hereditary spastic paraplegia and its differential diagnosis.

References: [1] Reid E. Pure hereditary spastic paraplegia. J Med Genet. 1997;34:499–503. doi: 10.1136/jmg.34.6.499. [PMC free article] [Google Scholar]

Citations:

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• [1]