hereditary spastic paraplegia 17

Hereditary Spastic Paraplegia 17 (HSP17) is a complex hereditary disorder characterized by progressive weakness and spasticity in the lower limbs [8]. It is also known as Silver Syndrome, Autosomal Dominant Spastic Paraplegia Type 17, or SPG17.

The symptoms of HSP17 can range from mild to severe and may include:

• Weakness in the muscles of the hands, which is often the first sign of the disease [5]
• Gradual weakening in the legs
• Urinary bladder disturbance
• Spasticity (stiffness) of the lower limbs
• Abnormal gait
• Decreased reflexes

HSP17 is caused by a mutation in the BSCL2 gene, which is inherited in an autosomal dominant pattern [3]. This means that if one parent has the mutated gene, each child has a 50% chance of inheriting it.

The disease progression of HSP17 can vary widely among individuals, but it typically starts in adulthood and progresses slowly over several decades [1]. There is currently no cure for HSP17, but various treatments may help manage its symptoms and slow down its progression.

It's worth noting that HSP17 is a rare condition, and more research is needed to fully understand its causes, symptoms, and treatment options.

Hereditary Spastic Paraplegia (HSP) is a group of rare genetic disorders that affect the nervous system, leading to progressive weakness and stiffness in the legs. The signs and symptoms of HSP can vary depending on the specific type and severity of the condition.

Common Signs and Symptoms:

• Weakness and Stiffness: Gradual weakening and stiffening of the muscles in the legs, which can lead to difficulty walking or maintaining balance [1].
• Spasticity: Increased muscle tone, leading to stiffness and rigidity in the legs [2].
• Urinary Disturbances: Difficulty controlling urination due to weakened bladder muscles [3].
• Abnormal Gait: Changes in gait patterns, such as dragging the toes or having an abnormal walking style [4].
• Decreased Sensation: Impaired sensation in the hands and feet, including numbness, tingling, or loss of vibration sense [5].

Additional Symptoms:

• Muscle atrophy (wasting away) in the hands and feet
• Hyperreflexia (increased reflexes)
• Extensor plantar responses (a sign of upper motor neuron involvement)
• Pes cavus (high arches on the feet)

Variations in HSP:

• Pure HSPs, which are characterized by slowly progressive lower extremity spasticity and weakness
• Complex HSPs, which can involve upper limb symptoms, such as muscle atrophy and poor coordination

It's essential to note that the severity and progression of HSP can vary significantly among individuals. If you or someone you know is experiencing these symptoms, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References:

[1] - Context 2 [2] - Context 3 [3] - Context 8 [4] - Context 10 [5] - Context 6

Hereditary Spastic Paraplegia (HSP) 17, also known as SPG17, is a rare genetic disorder that affects the nervous system. Diagnostic tests for HSP 17 are crucial in confirming the diagnosis and ruling out other conditions.

Diagnostic Tests:

• Genetic Testing: Genetic testing can identify mutations in the BSCL2 gene, which is associated with HSP 17. This test can be performed on a blood sample or saliva swab.
• Clinical Evaluation: A thorough clinical evaluation by a neurologist or geneticist is essential to assess symptoms and medical history.
• Imaging Studies: Imaging studies such as MRI scans of the brain and spine may be ordered to rule out other conditions that may present with similar symptoms.

Additional Tests:

• Electrophysiologic Studies: These tests can help assess peripheral nerve, muscle, dorsal column, and corticospinal tract involvement in patients with HSP.
• Biomarker Dosages: Biomarkers such as the Ashworth Scale can be used to measure spasticity levels.

References:

• [3] Clinical resource with information about Hereditary spastic paraplegia 17 and its clinical features, BSCL2, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB
• [7] Oct 16, 2024 — Genetic testing for SPG4/spastin mutations is available commercially, can provide laboratory confirmation of the diagnosis, and can be applied ...
• [9] Oct 16, 2024 — Electrophysiologic studies are useful for assessing peripheral nerve, muscle, dorsal column, and corticospinal tract involvement in patients with HSP.
• [8] The Ashworth Scale is the most commonly administered tool for objective measures of spasticity.

Pharmacological Treatment Options for Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases characterized by progressive spasticity and weakness of the lower limbs. While there is no cure for HSP, various pharmacological treatments have been explored to manage its symptoms.

Antispastic Drugs

• Baclofen: A muscle relaxant that can help reduce spasticity and improve mobility [3][4].
• Tizanidine: Another muscle relaxant that has been shown to be effective in reducing spasticity and improving functional ability [6][8].
• Gabapentin/Pregabalin: These oral medications have been prescribed as muscle relaxants to reduce spasticity and improve quality of life [6].

Other Treatments

• Botulinum toxin injections: Can help reduce spasticity by temporarily blocking nerve signals that cause muscle contractions [6].
• Intrathecal baclofen therapy: A treatment where a pump is implanted under the skin to deliver medication directly into the spinal fluid, providing sustained relief from spasticity [9].

Emerging Treatments

• Guanabenz: An FDA-approved drug that inhibits oxidative stress and ER stress, which may help reduce spasticity in HSP patients [9].

It's essential to note that each patient's response to treatment can vary, and the most effective approach often involves a combination of pharmacological treatments and physical therapy. Consultation with a healthcare professional is necessary to determine the best course of treatment for individual cases.

References: [3] Oct 16, 2024 - As previously mentioned, antispastic drugs may help the patient to reduce the spasticity and may allow weakened muscles to be targeted in order ... [6] Oral medications such as Baclofen, Tizanidine, Gabapentin/Pregabalin are prescribed as muscle relaxants to reduce spasticity. Botulinum toxin injections or an ... [8] Management and treatment. Management is symptomatic with physiotherapy, anti-spasticity drugs (baclofen, tizanidine, diazepam, botulinum toxin), and orthoses. [9] FDA-approved drugs that inhibit oxidative stress and ER stress, which may help reduce spasticity in HSP patients ...