hereditary spastic paraplegia 84

Hereditary Spastic Paraplegia 84 (SPG84) is a rare genetic disorder characterized by slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity [1]. This condition typically affects individuals in the first two decades of life, with symptoms gradually worsening over time.

The primary features of SPG84 include:

• Lower limb weakness and stiffness
• Spasticity (increased muscle tone) in the legs *

Hereditary Spastic Paraplegia (HSP) is a group of inherited disorders that primarily affect the nervous system, leading to progressive muscle stiffness (spasticity) in the legs and difficulty walking. The signs and symptoms of HSP can vary greatly among individuals, but common manifestations include:

• Lower limb weakness and spasticity [11]
• Progressive gait difficulty [15]
• Hyperreflexia
• Clonus
• Extensor plantar responses
• Spastic leg paresis

In some cases, the arms may also be affected, and sensation and sphincter function are usually spared. The symptoms of HSP can range from mild to severe and typically worsen over time.

It's worth noting that there are two main types of HSP: pure and complicated. Pure HSP is characterized primarily by symptoms such as hyperreflexia, hypertonicity or contralateral limb spasticity, bladder incontinence, and tactile sensory loss [8]. Complicated HSP, on the other hand, includes a wide range of neurological symptoms that impact the brain, spinal cord, and nerves, in addition to spasticity and weakness [10].

References:

[11] Hereditary spastic paraplegia (HSP), also known as familial spastic paraparesis, refers to a group of inherited disorders that involves weakness and spasticity, which is stiffness of the legs. These symptoms get worse over time. Early in the disease, there may be mild trouble walking and stiffness. These symptoms typically get worse slowly ...

[15] Symptoms and signs of hereditary spastic paraplegia include spastic leg paresis, with progressive gait difficulty, hyperreflexia, clonus, and extensor plantar responses. Sensation and sphincter function are usually spared. The arms may also be affected. Deficits are not localized to a spinal cord segment.

Hereditary Spastic Paraplegia (HSP) is a group of genetic conditions that primarily affect the legs, leading to progressive difficulty walking. Diagnostic tests for HSP are crucial in confirming the diagnosis and ruling out other potential causes of spasticity.

Diagnostic Tests:

• Clinical History and Neurological Examination: A thorough medical history and neurological examination by a healthcare professional can help identify symptoms such as weakness, stiffness, or spasms in the legs [4].
• Investigations: Various investigations may be conducted to rule out other causes of spasticity, including:
  • Blood tests to check for metabolic disorders or infections [8]
  • Imaging studies like MRI or CT scans to evaluate spinal cord or nerve damage [7]
  • Electrophysiological studies to assess muscle and nerve function [9]
• Molecular Genetic Testing: This is a crucial diagnostic tool for HSP, as it can identify specific genetic mutations responsible for the condition. A 75-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of spastic paraplegia [2].
• Other Diagnostic Tests: Depending on the individual case, other tests may be conducted to rule out alternative differential diagnoses, such as:
  • Hoffmann test to assess reflexes and muscle tone [3]
  • Imaging studies to evaluate spinal cord or nerve damage

ICD-9 Codes:

The ICD-9 codes for HSP-related conditions are:

• 84.0: Amputation of upper limb
• 84.1: Amputation of lower limb
• 84.2: Reattachment of extremity
• 84.3: Revision of amputation stump
• 84.4: Implantation or fitting of prosthetic limb device
• 84.5: Implantation of other musculoskeletal devices and substances
• 84.6: Replacement of spinal disc
• 84.7: Adjunct codes for external fixator devices
• 84.8: Insertion, replacement, and revision of posterior spinal motion preservation device(s)
• 84.9: Other operations on musculoskeletal system

Please note that these ICD-9 codes are not directly related to the diagnostic tests for HSP but rather provide additional context for understanding the condition.

References:

[1] A Hensiek (2015) - The hereditary spastic paraplegias (HSPs) are a group of genetic conditions in which spastic paralysis of the legs is the principal clinical feature. [2] Nov 13, 2023 - A 75 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of spastic paraplegia. [3] A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's ... [4] by A Datta - Diagnosis is by clinical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of the alternative differential ... [5] by JK Fink (2003) - The hereditary spastic paraplegias (HSPs) are inherited neurologic disorders in which the primary symptom is insidiously progressive difficulty walking. [6] Jul 1, 2020 - Hereditary spastic paraplegias are divided into two main categories: pure and complicated HSP. [7] by A Datta - MRI or CT scans may be conducted to evaluate spinal cord or nerve damage. [8] by A Datta - Blood tests may be conducted to check for metabolic disorders or infections. [9] by JK Fink (2003) - Electrophysiological studies may be conducted to assess muscle and nerve function.

Hereditary Spastic Paraplegia (HSP) is a group of genetic conditions that cause muscle weakness and tightness in the legs, which can progress over time. While there is no cure for HSP, various drug treatments have been investigated to manage its symptoms.

Medications:

• Baclofen: A muscle relaxant that has been used to treat spasticity and stiffness in HSP patients [8][14].
• Botulinum toxin injections: Have been shown to be effective in reducing spasticity and improving mobility in some individuals with HSP [11][12].
• Progabide: Has demonstrated moderate efficacy in treating HSP symptoms, although more research is needed to confirm its effectiveness [1][13].

Other potential treatments:

• Rapamycin (RM), N-Acetyl Cysteine (NAC), Guanabenz (GA), and Methylene blue (MB) have been studied in animal models for their potential therapeutic effects on HSP [3][13].
• Gabapentin: Has shown moderate efficacy in treating HSP symptoms, although more research is needed to confirm its effectiveness [1].

Important notes:

• These medications may have side effects, such as drowsiness, dizziness, weakness, confusion, and upset stomach [2].
• Treatment should be tailored to individual needs, and patients should consult their doctor or pharmacist for guidance.
• In case of emergency or overdose, seek medical attention immediately.

It is essential to note that while these medications may help manage HSP symptoms, they do not cure the condition. Further research is needed to develop more effective treatments for hereditary spastic paraplegia.

Hereditary Spastic Paraplegia (HSP) 84, also known as Spastic Paraplegia 84 (SPG84), is a rare autosomal recessive disorder characterized by slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity in the first two decades of life [1]. In addition to these primary features, individuals with SPG84 may also experience nystagmus, urinary urgency, joint contractures, and possible learning disabilities [1].

When considering the differential diagnosis for HSP 84, it is essential to rule out other neurodegenerative disorders that present with similar symptoms. Some of the key conditions to consider in the differential diagnosis include:

• Hereditary Spastic Paraplegia (HSP): A group of clinically and genetically heterogeneous neurological disorders characterized by pathophysiologic hallmark features such as spasticity, weakness, and ataxia [4].
• Complicated or syndromic HSP: A subtype of HSP that includes other neurologic abnormalities, such as neuropathy, amyotrophy, and cognitive impairment [3].
• **X-Linked adrenomyel