hereditary spastic paraplegia 7

Hereditary Spastic Paraplegia 7 (SPG7) is a rare genetic disorder that affects the nervous system, causing progressive weakness and stiffness in the leg muscles.

Characteristics:

• Progressive muscle stiffness (spasticity): People with SPG7 experience increasing stiffness in their legs, making it difficult to walk or move around.
• Lower limb weakness: The condition leads to a gradual decline in muscle strength in the lower limbs, affecting mobility and balance.
• Degeneration of corticospinal axons: SPG7 is characterized by degeneration of the corticospinal axons, which are nerve fibers responsible for transmitting signals from the brain to the spinal cord.

Age of onset:

• The condition typically begins in adulthood, with symptoms appearing between 10-72 years of age.
• However, some cases may start earlier or later in life.

Inheritance pattern:

• SPG7 is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

References:

• [1] Jun 25, 2021 — Like all hereditary spastic paraplegias, spastic paraplegia type 7 involves spasticity of the leg muscles and some muscle weakness. People with ... (Source: Search result 1)
• [2] Hereditary spastic paraplegia (SPG) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. (Source: Search result 9)
• [3] Oct 25, 2018 — Spastic paraplegia 7 (SPG7) is characterized by insidiously progressive bilateral leg weakness and spasticity. (Source: Search result 6)
• [4] Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. (Source: Search result 7)

Note: The above information is based on the search results provided, which are up to date as of June 2021 and October 2018.

Hereditary spastic paraplegia type 7 (SPG7) is a genetic disorder that affects the central nervous system, specifically nerve cells in the spinal cord. The predominant signs and symptoms of SPG7 are lower-extremity weakness and spasticity.

Common Symptoms:

• Gradual weakening in the legs [5]
• Increased muscle tone and stiffness (spasticity) [3][5]
• Problems peeing – such as an urgent need to urinate [5]
• Decreased vibratory sense at the ankles [7][15]
• Abnormal gait [8][9]

Additional Features:

• Ataxia (gait and limbs) [11]
• Spastic dysarthria (speech difficulties) [11]
• Dysphagia (swallowing difficulties) [11]
• Pale or thin appearance [11]

Progression of Symptoms: Symptoms of SPG7 typically start in adulthood, although they can begin as early as age 11 years and as late as age 72 years. The symptoms gradually worsen over time.

It's essential to note that the severity and progression of symptoms can vary significantly among individuals with SPG7. If you or someone you know is experiencing these symptoms, it's crucial to consult a healthcare professional for proper diagnosis and guidance.

Hereditary Spastic Paraplegia 7 (SPG7) can be diagnosed through genetic testing, which involves analyzing the genes associated with this condition.

• Panel sequencing: This test analyzes multiple genes, including those associated with SPG7, to identify any genetic mutations that may be causing the symptoms. [1][2]
• Exome or genome sequencing: These tests analyze all the protein-coding regions of the genome (exome) or the entire genome to identify any genetic mutations that may be contributing to SPG7. [3][4]
• Diagnostic testing: This type of testing can inform prognosis and clinical management, but it is essential to note that the diagnostic sensitivity of the testing used for each gene varies by laboratory and is likely to change over time. [5]

In addition to genetic testing, a diagnosis of SPG7 may also be suspected based on clinical presentation, including:

• Insidiously progressive bilateral leg weakness and spasticity
• Decreased vibration sense and cerebellar signs
• Onset in adulthood, although symptoms may start as early as age 11 years and as late as age 72 years [6][10]

It's worth noting that a diagnosis of SPG7 can be confirmed through genetic testing, which is recommended to identify a potential genetic basis for the condition. This type of testing can inform prognosis and clinical management. [7]

Hereditary Spastic Paraplegia (HSP) type 7, also known as Spastic Paraplegia 7 (SPG7), is a rare genetic disorder that affects the nervous system. While there is no cure for HSP type 7, various drug treatments can help manage its symptoms.

Muscle Relaxants

• Baclofen: This medication is often prescribed to reduce muscle spasticity and stiffness in individuals with HSP type 7 [1][3][6]. It works by blocking the action of a chemical messenger (neurotransmitter) that causes muscles to contract.
• Tizanidine: Another muscle relaxant, tizanidine can help alleviate muscle spasms and stiffness associated with HSP type 7 [1][6].
• Gabapentin/Pregabalin: These medications are sometimes used to treat nerve pain and muscle spasticity in individuals with HSP type 7 [8].

Botulinum Toxin Injections

• Botulinum toxin injections can be used to temporarily relax muscles that are causing spasms or stiffness in individuals with HSP type 7 [6][9]. This treatment is often used for localized areas of muscle spasticity.

Other Treatments

• Physical therapy: Regular physical therapy sessions can help maintain mobility and strength, as well as improve balance and coordination in individuals with HSP type 7.
• Occupational therapy: Occupational therapists can provide guidance on adapting daily activities to accommodate the physical limitations caused by HSP type 7.

It's essential to note that each individual may respond differently to these treatments, and a healthcare professional should be consulted for personalized advice. Additionally, while these medications can help manage symptoms, they do not cure HSP type 7.

References:

[1] - [12] are references from the provided context.

Hereditary Spastic Paraplegia 7 (SPG7) is a type of hereditary spastic paraplegia that is characterized by insidiously progressive bilateral leg weakness and spasticity. Most affected individuals have decreased vibration sense and cerebellar signs, with onset typically occurring in adulthood [3]. However, symptoms can start as early as age 11 years and as late as age 72 years.

In addition to the primary features of SPG7, other symptoms may include ataxia (gait and limbs), spastic dysarthria, dysphagia, and pale discoloration of the skin [11]. It's essential to consider these additional features when making a differential diagnosis for SPG7.

The differential diagnosis for SPG7 includes conditions such as:

• Structural abnormalities involving the brain or spinal cord (e.g., tethered cord syndrome and spinal cord compression)
• Other genetic disorders that can cause spastic paraplegia, such as mutations in GBA2 and PNPLA6
• Cerebellar ataxia with spasticity caused by other genes, such as Cerebrotendinous xanthomatosis, Friedreich’s ataxia, and Niemann–Pick disease type C

It's also crucial to rule out treatable disorders that can mimic the symptoms of SPG7, such as B12 deficiency, cervical spondylosis, dopa-responsive dystonia, multiple sclerosis [15].

A comprehensive evaluation by a healthcare professional is necessary to accurately diagnose and differentiate SPG7 from other conditions.