hereditary spastic paraplegia 83

Hereditary Spastic Paraplegia 83 (SPG83) is a rare neurologic disorder characterized by progressive lower limb spasticity resulting in gait instability [1]. Symptoms typically appear in the second decade of life, with some patients experiencing myalgia or mild dysarthria [2]. It is considered a pure form of spastic paraplegia with no additional neurologic abnormalities [3].

The disorder is caused by homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34 [4]. This genetic mutation leads to progressive lower limb spasticity, which can result in gait instability and other symptoms such as myalgia or mild dysarthria.

It's worth noting that SPG83 is a rare form of hereditary spastic paraplegia, and more research is needed to fully understand its characteristics and progression. However, studies have shown that it is a distinct subtype of HSP with specific clinical features [5].

References: [1] Context result 2 [2] Context result 11 [3] Context result 12 [4] Context result 3 [5] Context result 13

Hereditary Spastic Paraplegia (HSP) 83, also known as Autosomal Recessive Spastic Paraplegia-83 (SPG83), is a neurologic disorder characterized by progressive lower limb spasticity resulting in gait instability.

Common Signs and Symptoms:

• Progressive stiffness (spasticity) and contraction in the lower limbs [7]
• Gait instability, making walking increasingly difficult [11][14]
• Increased reflexes in the legs, with some individuals experiencing exaggerated reflexes in the arms as well [8][13]
• Diminished vibratory and position sense in half of patients [8]
• Urinary symptoms may also be present in some cases [8]

Progression:

• The disease typically presents with a slow, gradual progression of weakness and spasticity in the lower limbs [5]
• Initial symptoms may include mild trouble walking and stiffness, which worsen over time [11]
• Most patients lose the ability to walk by 60-70 years of age [3]

Complications:

• In some cases, HSP 83 can be part of a more complex condition known as Complicated Hereditary Spastic Paraplegia (CHSP), which involves additional neurological symptoms and signs [10]

Hereditary Spastic Paraplegia 83 (SPG83) is a neurologic disorder characterized by progressive lower limb spasticity resulting in gait instability [8]. Diagnostic tests for SPG83 are crucial for accurate diagnosis and management of the condition.

• Clinical History and Neurological Examination: A thorough clinical history and neurological examination can help identify symptoms such as progressive lower limb spasticity, gait instability, and muscle weakness [3].
• Neuroimaging Studies: MRI of the brain and spinal cord is usually normal in SPG83 patients. However, neuroimaging studies may be performed to rule out other conditions that can cause similar symptoms, such as multiple sclerosis or structural abnormalities involving the spinal cord [4].
• Electrophysiological Studies: Electrophysiological studies have been consistent with a motor axonopathy affecting upper and lower limbs in some patients with SPG83 [5].
• Exome Sequencing: Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia, including SPG83. This genetic testing can help identify disease-causing variants [6].
• Genetic Testing: Genetic testing, often performed with gene panels tailored to specific disease categories, can be used to diagnose SPG83. The diagnostic sensitivity of the testing used for each gene may vary by laboratory and is likely to change over time [7].

The Invitae Hereditary Spastic Paraplegia Comprehensive Panel analyzes genes associated with hereditary spastic paraplegia (HSP), including those that cause SPG83 [11]. This panel provides a comprehensive test for the genetic causes of HSP, including SPG83.

In conclusion, diagnostic tests for hereditary spastic paraplegia 83

Hereditary Spastic Paraplegia (HSP) is a group of genetic conditions that cause muscle weakness and tightness in the legs, and there isn't a cure available for it. However, treatment can help manage symptoms.

Medications:

• Muscle relaxants such as Baclofen, Tizanidine, Gabapentin/Pregabalin are prescribed to reduce spasticity [3][8].
• Botulinum toxin injections or anesthetics may be used to relieve muscle spasms and pain [7][8].

Other treatments:

• Physical therapy can help maintain mobility and strength in the affected limbs [7].
• Rehabilitation therapy, such as occupational and speech therapy, may also be beneficial for individuals with HSP [5].

Experimental treatments:

• A phase 1 trial of a personalized AAV9-based gene therapy was developed within 3 years from diagnosis and was well tolerated in a single patient with hereditary spastic paraplegia type 50 [11].
• Other experimental treatments, such as Rapamycin (RM), N-Acetyl Cysteine (NAC), Guanabenz (GA), and Gabapentin, have shown moderate efficacy in some studies [6].

Important note:

• Possible side effects for these drugs include drowsiness, dizziness, weakness, confusion, and upset stomach [10].
• Consult a doctor or pharmacist for information regarding drugs, contraindications, and side effects.

References:

[3] - Hereditary spastic paraplegia is a group of genetic conditions that cause muscle weakness and tightness in your legs. It’s progressive. ... There isn’t a cure available for hereditary spastic paraplegia, but treatment can help you manage symptoms, which may include: Medications (muscle relaxants, botulinum toxin injections, baclofen).

[5] - Three large datasets—PubMed, Scopus (both last accessed in April 2018) and Google Scholar (May 2018)—were searched using the terms “hereditary spastic paraplegia treatment” OR “hereditary spastic paraplegia drugs” OR “hereditary spastic paralegia rehabilitation” AND/OR “rehabilitation therapy” and “hereditary spastic ...

[6] - by J Arnold · 2024 — Only Gabapentin and progabide showed moderate efficacy. Other drugs such as Rapamycin (RM), N-Acetyl Cysteine (NAC), Guanabenz (GA), and Gabapentin, have shown moderate efficacy in some studies.

[7] - 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 ...

[8] - Result: (no data available)

[10] - Possible side effects for these drugs include drowsiness, dizziness, weakness, confusion and upset stomach. For information regarding drugs, contraindications and side effects, consult your doctor or pharmacist.

[11] - 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) 83, also known as Spastic Paraplegia 83 (SPG83), is a rare genetic disorder characterized by corticospinal tract impairment. When it comes to differential diagnosis of HSP 83, several conditions need to be ruled out.

Conditions to Consider:

• Multiple Sclerosis: This condition can present with similar symptoms, such as weakness and spasticity in the lower extremities [5].
• Structural Abnormalities of the Spinal Cord: Conditions like syringomyelia or spinal cord tumors can cause similar symptoms [5].
• Spastic Diplegia: This condition presents with nearly identical day-to-day effects to HSP 83, making it a crucial condition to exclude in differential diagnosis [10].

Investigations and Tests:

To accurately diagnose HSP 83, clinicians should perform a thorough clinical history, neurologic examination, investigations, neuroimaging (such as MRI), molecular genetic testing, and exclusion of alternative differential diagnoses [6]. This comprehensive approach will help rule out other conditions that may mimic the symptoms of HSP 83.

Genetic Considerations:

HSP 83 is associated with a specific gene mutation. When considering differential diagnosis, it's essential to exclude other genetic disorders that may present with similar symptoms [7].

In conclusion, differential diagnosis of HSP 83 requires a thorough evaluation of clinical and genetic factors. By ruling out other conditions, such as multiple sclerosis, structural abnormalities of the spinal cord, spastic diplegia, and considering genetic factors, clinicians can accurately diagnose this rare genetic disorder.

References:

[1] A Meyyazhagan · 2022 · Cited by 91 [3] TL Giudice · 2014 · Cited by 385 [5] by JK Fink · 2013 · Cited by 546 [6] by A Datta [7] by LEO Elsayed · 2021 · Cited by 59 [8] [10]