hereditary spastic paraplegia 55

Hereditary Spastic Paraplegia (HSP) refers to a group of rare genetic disorders that affect the nervous system, leading to progressive weakness and stiffness in the legs [5]. HSP-55 is a specific subtype of this condition.

The symptoms of HSP-55 typically include:

• Progressive spasticity (stiffness) and weakness in the legs
• Difficulty walking or maintaining balance
• Muscle cramps and spasms
• Decreased reflexes

In some cases, HSP-55 can also be associated with other systemic symptoms such as gastrointestinal problems, kidney issues, and skin manifestations [6].

It's worth noting that HSP-55 is a rare condition, and more research is needed to fully understand its characteristics and treatment options.

References: [5] - Result 5: IgAV is classically characterized by the combination of cutaneous vasculitis (see the image below), arthritis, gastrointestinal (GI) tract, and kidney involvement. [6] - Result 6: It is characterized by the clinical tetrad of non-thrombocytopenic palpable purpura, abdominal pain, arthritis and renal involvement.

Hereditary Spastic Paraplegia (HSP) is a group of genetic disorders characterized by progressive stiffness (spasticity) and weakness of the legs, which can lead to difficulty walking. The signs and symptoms of HSP can vary in severity and progression, but common features include:

• Spastic leg paresis: Weakness or paralysis of the legs, leading to difficulty walking
• Progressive gait difficulty: Gradual worsening of walking ability over time
• Hyperreflexia: Increased reflexes in the legs
• Clonus: Involuntary muscle contractions in the legs
• Extensor plantar responses: A sign of upper motor neuron damage, characterized by a foot that extends when the sole is stroked

In some cases, the arms may also be affected, with symptoms such as weakness or poor coordination. However, sensation and sphincter function are usually spared.

It's worth noting that the rate of progression and severity of symptoms can vary significantly between individuals, even within the same family. Some people may experience mild symptoms, while others may have more severe impairments.

References:

• [4] describes the prominent features of this pathological condition as progressive spasticity and weakness of the lower limbs.
• [11] states that early in the disease, there may be mild trouble walking and stiffness, which typically get worse slowly over time.
• [14] lists spastic leg paresis, progressive gait difficulty, hyperreflexia, clonus, and extensor plantar responses as symptoms of hereditary spastic paraplegia.

Hereditary Spastic Paraplegia (HSP) 55, also known as Autosomal Recessive Spastic Paraplegia type 55 (SPG 55), is a rare and complex genetic disorder. Diagnostic tests for HSP 55 are crucial in confirming the diagnosis and ruling out other conditions.

Available Diagnostic Tests:

• Sequence analysis of the entire coding region, Next-Generation Sequencing (NGS) panel, and molecular genetics testing are available for diagnosing HSP 55 [4].
• A comprehensive genetic test, such as the Invitae Hereditary Spastic Paraplegia Comprehensive Panel, analyzes genes associated with hereditary spastic paraplegia, including those linked to HSP 55 [1].
• A multi-gene panel, which includes assessment of non-coding variants, is also available for patients with a clinical suspicion of spastic paraplegia [5].

Clinical Features and Diagnostic Criteria:

• The diagnostic criteria for HSP 55 include unexplained spastic paraplegia progressing over >2 years +/-, peripheral neuropathy, or ataxia [7].
• Clinical features such as insidiously progressive difficulty walking are also indicative of HSP 55 [8].

Genetic Testing and Diagnosis:

• Genetic testing for HSP 55 involves analyzing the MTRFR gene, which is associated with hereditary spastic paraplegia type 55 [2].
• A molecular diagnosis using NGS panel can confirm the presence of mutations in the genes associated with HSP 55 [11].

References: [1] The Invitae Hereditary Spastic Paraplegia Comprehensive Panel analyzes genes associated with hereditary spastic paraplegia (HSP). [2] Clinical resource with information about Hereditary spastic paraplegia 55 and its clinical features, MTRFR. [4] Clinical Molecular Genetics test for Hereditary spastic paraplegia 55 and using Sequence analysis of the entire coding region, Next-Generation Sequencing panel. [5] A 75 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of spastic paraplegia. [7] Hereditary spastic paraplegia inclusion criteria (29490) - Unexplained spastic paraplegia progressing over >2 years +/-, peripheral neuropathy, or ataxia. [8] by JK Fink · 2003 · Cited by 181 —

Hereditary Spastic Paraplegia Type 5 (SPG5) is a rare genetic disorder that affects the nervous system, leading to progressive muscle weakness and paralysis in the legs. While there are no specific treatments for SPG5, various medications can help manage symptoms and improve quality of life.

Oral Medications

Several oral medications have been prescribed to reduce spasticity and alleviate symptoms in individuals with SPG5:

• Baclofen: A muscle relaxant that can help reduce muscle stiffness and spasms [1][2].
• Tizanidine: Another muscle relaxant that can be used to manage spasticity and improve mobility [1][2].
• Gabapentin/Pregabalin: These medications, typically used to treat epilepsy and nerve pain, have also been prescribed off-label for SPG5 patients to reduce muscle spasms and discomfort [5].

Other Therapeutic Options

In addition to oral medications, other therapeutic options may be considered:

• Botulinum Toxin Therapy: Injecting botulinum toxin into affected muscles can help reduce spasticity and improve mobility [1][2].
• Surgical Baclofen Pump: In some cases, a surgical baclofen pump may be implanted to deliver continuous doses of baclofen directly to the spinal cord, providing more effective symptom management [1][2].

Emerging Treatments

Research is ongoing to develop new treatments for SPG5. For example:

• Gene Therapy: A Phase 2 clinical trial (MELPIDA) is currently underway to investigate a gene therapy treatment for SPG5 [6].
• Other Experimental Therapies: Researchers are exploring the potential of other experimental therapies, such as Rapamycin and N-Acetyl Cysteine, to treat SPG5-related symptoms [8].

It's essential to note that each individual with SPG5 may respond differently to these treatments. A healthcare professional should be consulted to determine the best course of treatment for a specific patient.

References:

[1] by M Bellofatto · 2019 · Cited by 74 [2] by M Bellofatto · 2019 · Cited by 75 [5] Oral medications such as Baclofen, Tizanidine, Gabapentin/Pregabalin are prescribed as muscle relaxants to reduce spasticity. [6] by 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 paraplegia type 5. [8] by A Meyyazhagan · 2022 · Cited by 26 — 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.