hereditary spastic paraplegia 73

Hereditary Spastic Paraplegia 73 (SPG73) is a rare genetic disorder that affects the nervous

Hereditary Spastic Paraplegia Type 73 (SPG73) is a rare genetic disorder characterized by progressive weakness and stiffness in the legs, also known as spasticity. The signs and symptoms of SPG73 can vary from person to person, but here are some common ones:

• Adult onset crural spastic paraparesis: This refers to the gradual development of muscle weakness and stiffness in the lower limbs, typically starting in adulthood.
• Hyperreflexia: Exaggerated reflexes, particularly in the legs, can be a symptom of SPG73.
• Extensor plantar responses: This is a condition where the feet have an abnormal response to stimulation, characterized by an upward movement of the foot.
• Proximal muscle weakness: Weakness in the muscles closest to the trunk of the body can occur.
• Mild muscle atrophy: Gradual wasting away of muscles can be observed.
• Decreased vibration sensation: People with SPG73 may experience a reduced ability to feel vibrations, particularly in the ankles.
• Mild urinary dysfunction: Some individuals may experience mild problems with bladder control.

It's worth noting that foot deformities have been reported to eventually occur in some patients with SPG73. The symptoms of this condition can progress over time, and affected individuals may lose the ability to walk by 60-70 years of age.

References:

• [1] Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. [1]
• [15] A pure form of hereditary spastic paraplegia with characteristics of adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. [15]

Hereditary Spastic Paraplegia (HSP) 73, also known as Autosomal Dominant Spastic Paraplegia Type 73 (SPG73), is a rare genetic disorder characterized by adult-onset crural spastic paraparesis. Diagnostic tests for HSP 73 are crucial for accurate diagnosis and management of the condition.

Genetic Testing

Genetic testing is a key diagnostic tool for HSP 73. The Invitae Hereditary Spastic Paraplegia Comprehensive Panel, which analyzes genes associated with hereditary spastic paraplegia (HSP), can help identify the genetic cause of HSP 73 [1]. This panel includes assessment of non-coding variants and is ideal for patients with a clinical suspicion of spastic paraplegia [6].

Clinical Genetic Test

A Clinical Genetic Test offered by Intergen for conditions, including Hereditary Spastic Paraplegia 73, can also be used to diagnose HSP 73. This test includes assessment of the CPT1C gene, which is associated with SPG73 [7].

Multi-Gene Panel

A multi-gene panel that analyzes 103 genes, including the most common genetic causes of Hereditary Spastic Paraplegia (HSP), such as SPAST, ATL1, SPG11, and CYP7B1, can also be used to diagnose HSP 73 [9].

Diagnostic Sensitivity

The diagnostic sensitivity of these tests may vary by laboratory and is likely to change over time. Therefore, it's essential to consult with a healthcare professional for accurate diagnosis and management of HSP 73.

References:

[1] The Invitae Hereditary Spastic Paraplegia Comprehensive Panel analyzes genes associated with hereditary spastic paraplegia (HSP), a clinically and genetically heterogeneous group of neurological conditions characterized by lower-extremity spastic weakness. [Context: 1]

[6] A 75 gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of spastic paraplegia. [Context: 6]

[7] Clinical Genetic Test offered by Intergen for conditions (1): Hereditary spastic paraplegia 73; Testing genes (1): CPT1C (19q13.33). [Context: 7]

[9] A multi-gene panel that analyzes 103 genes, including the most common genetic causes of Hereditary Spastic Paraplegia (HSP), such as SPAST, ATL1, SPG11, and CYP7B1, can also be used to diagnose HSP 73. [Context: 9]

Hereditary Spastic Paraplegia (HSP) is a group of genetic disorders that cause progressive lower extremity weakness and spasticity. While there is no cure for HSP, various drug treatments can help manage symptoms.

Medications:

• Muscle relaxants: Baclofen, Tizanidine, Gabapentin/Pregabalin are commonly prescribed to reduce spasticity [5][9]. These medications can sometimes relieve spasticity and improve mobility.
• Botulinum toxin injections: Injecting botulinum toxin into affected muscles can help reduce spasticity and improve range of motion [3].

Other treatments:

• Physical therapy: Regular physical therapy can help maintain muscle strength, flexibility, and range of motion [4].
• Surgical baclofen pump: In some cases, a surgical baclofen pump may be implanted to deliver medication directly into the spinal cord [3].

Efficacy of medications:

• A study found that only Gabapentin and progabide showed moderate efficacy in treating HSP symptoms [7].
• Other drugs such as Rapamycin (RM), N-Acetyl Cysteine (NAC), Guanabenz (GA), and others have been studied, but their effectiveness is still unclear [7].

Important notes:

• There are no treatments to prevent, slow, or reverse HSP [8].
• Regular physical therapy can help manage symptoms and improve quality of life.
• Medications may have side effects such as drowsiness, dizziness, weakness, confusion, and upset stomach [11]. Consult a doctor or pharmacist for more information.

References:

[3] - Therapeutic options include physical therapy, oral antispastic drugs (baclofen, progabide, dalfampridine), botulinum toxin therapy, and surgical baclofen pump ...

[4] - Both girls, Robbie Edwards and Molly Duffy, had been diagnosed with hereditary spastic paraplegia (HSP), a group of more than 80 genetic conditions. Untreated, the spasticity and weakness slowly progress, often requiring a wheelchair by age 10, and are often accompanied by global developmental delays and seizures.

[5] - Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative diseases characterised by progressive spasticity of the lower limbs. The pathogenic mechanism, associated clinical features, and imaging abnormalities vary substantially according to the affected gene and differentiating HSP from other genetic diseases associated with spasticity can be challenging.

[7] - Oral medications such as Baclofen, Tizanidine, Gabapentin/Pregabalin are prescribed as muscle relaxants to reduce spasticity. Botulinum toxin injections or an ...

[8] - In a phase 1 trial in a single patient with hereditary spastic paraplegia type 50, a personalized AAV9-based gene therapy was developed within 3 years from diagnosis and was well tolerated ...

Hereditary Spastic Paraplegia (HSP) type 73, also known as Autosomal Dominant Spastic Paraplegia Type 73, is a rare neurodegenerative disorder characterized by adult-onset crural spasticity. When considering the differential diagnosis of HSP-73, several conditions should be ruled out.

• Multiple Sclerosis: This autoimmune disease can cause symptoms similar to those of HSP-73, including weakness and spasticity in the lower extremities [6].
• Structural Abnormalities: Conditions such as spinal cord compression or structural abnormalities can mimic the symptoms of HSP-73 [6].
• B12 Deficiency: Vitamin B12 deficiency can cause neurological symptoms, including weakness and spasticity, which may be similar to those experienced in HSP-73 [6].
• Adrenomyeloneuropathy: This rare genetic disorder affects the adrenal glands and spinal cord, leading to symptoms such as weakness and spasticity in the lower extremities [6].

It's essential to note that a comprehensive diagnosis of HSP-73 involves clinical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of alternative differential diagnoses [5]. A detailed evaluation by a healthcare professional is necessary to accurately diagnose this condition.

References: [1] - Description. Autosomal dominant spastic paraplegia type 73 is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic ... [6] - The differential diagnosis includes multiple sclerosis, structural abnormalities involving the spinal cord, B12 deficiency, adrenomyeloneuropathy and other ... [5] - by A Datta — Diagnosis is by clinical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of the alternative differential ...