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hereditary spastic paraplegia 70

Description

Hereditary Spastic Paraplegia Type 70 (HSP70) is a rare and complex subtype of Hereditary Spastic Paraplegia (HSP). It presents in infancy with delayed motor development, characterized by difficulties walking due to spasticity of the lower limbs [7].

The symptoms of HSP70 are generally limited to gradual weakening in the legs, urinary bladder disturbance, spasticity, abnormal gait, decreased muscle tone, and stiffness in the legs [3]. In some cases, additional features may involve global developmental delay, intellectual disability, and other neurological problems [8].

HSP70 is a rare subtype of HSP, with limited information available on its specific characteristics. However, it is considered to be a severe form of HSP, with significant impact on the quality of life for affected individuals.

Key Features:

  • Delayed motor development in infancy
  • Difficulties walking due to spasticity of the lower limbs
  • Gradual weakening in the legs
  • Urinary bladder disturbance
  • Spasticity and stiffness in the legs
  • Global developmental delay and intellectual disability (in some cases)

References:

[7] - Characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that is a hereditary spastic paraplegia. [3] - Oct 16, 2024 โ€” In pure HSP, symptoms are generally limited to gradual weakening in the legs, urinary bladder disturbance, spasticity, abnormal gait, decreased muscle tone, and stiffness in the legs. [8] - Symptoms include difficulties walking, muscle weakness, and stiffness in the legs. Additional features may involve global developmental delay, intellectual disability.

Additional Characteristics

  • Delayed motor development in infancy
  • Difficulties walking due to spasticity of the lower limbs
  • Gradual weakening in the legs
  • Urinary bladder disturbance
  • Spasticity and stiffness in the legs
  • Global developmental delay and intellectual disability (in some cases)

Signs and Symptoms

Hereditary Spastic Paraplegia (HSP) 70, also known as Pure HSP, presents with a range of symptoms that primarily affect the lower limbs.

Common Signs and Symptoms:

  • Gradual weakening in the legs [1]
  • Urinary bladder disturbance [1], [5]
  • Spasticity, which is an increased muscle tone leading to stiffness and rigidity [6]
  • Abnormal gait due to foot dragging and toes catching [9]
  • Decreased vibration sensation in the toes [4]

Additional Symptoms:

  • Brisk reflexes [6]
  • Extensor plantar reflexes
  • Muscle weakness
  • Variable bladder disturbances

Age of Onset: The symptoms of Pure HSP can arise anywhere from early childhood to approximately 60-70 years of age, with most patients losing the ability to walk by this age [3].

Other Symptoms:

  • Mild upper extremity hyperreflexia without increased muscle tone, weakness, or impaired sensation
  • Diminished vibratory and position sense in half of patients
  • Increased reflexes are usually the only sign of involvement of the arms

It's essential to note that the symptoms can vary in severity and progression among individuals with HSP 70.

Additional Symptoms

  • Gradual weakening in the legs
  • Urinary bladder disturbance
  • Abnormal gait due to foot dragging and toes catching
  • Decreased vibration sensation in the toes
  • Brisk reflexes
  • Extensor plantar reflexes
  • Variable bladder disturbances
  • Mild upper extremity hyperreflexia without increased muscle tone, weakness, or impaired sensation
  • Diminished vibratory and position sense
  • muscle weakness
  • spasticity

Diagnostic Tests

Hereditary Spastic Paraplegia (HSP) is a rare neurodegenerative disorder characterized by progressive difficulty walking. Diagnostic tests for HSP are crucial in confirming the diagnosis and ruling out other conditions.

Clinical History and Neurological Examination A thorough clinical history and neurological examination are essential in diagnosing HSP [7]. This includes assessing the patient's symptoms, medical history, and performing a physical examination to evaluate muscle strength, reflexes, and coordination.

Investigations and Neuroimaging Various investigations and neuroimaging studies can help support the diagnosis of HSP. These include:

  • Electrophysiologic studies: useful for assessing peripheral nerve, muscle, dorsal column, and corticospinal tract involvement in patients with HSP [8].
  • Magnetic Resonance Imaging (MRI): can show changes in the spinal cord, brainstem, or other areas affected by HSP.
  • Computed Tomography (CT) scans: may be used to rule out other conditions that could cause similar symptoms.

Molecular Genetic Testing Molecular genetic testing is a crucial diagnostic tool for HSP. This involves analyzing DNA samples from patients and their family members to identify specific genetic mutations associated with the condition [5]. The test includes sequencing 4 genes, including ATL1, SPAST, REEP1, KIF5A, and a SPAST deletion test, which can detect 70-80% of genetic causes of HSP [5].

Other Diagnostic Tests In some cases, other diagnostic tests may be necessary to rule out alternative differential diagnoses. These include:

  • Culdocentesis: a procedure used to examine the vaginal vault and cul-de-sac.
  • Incision or destruction of vagina and cul-de-sac: procedures used to diagnose or treat conditions affecting these areas.

ICD-9 Codes The International Classification of Diseases, 9th Revision (ICD-9) codes provide a standardized system for classifying diseases. For HSP, the relevant ICD-9 codes are:

  • 70.0: more specific diagnoses
  • 70.1: incision of vagina and cul-de-sac
  • 70.2: diagnostic procedures on vagina and cul-de-sac
  • 70.3: local excision or destruction of vagina and cul-de-sac
  • 70.4: obliteration and total excision of vagina
  • 70.5: repair of cystocele and rectocele
  • 70.6: vaginal construction and reconstruction
  • 70.7: other repair of vagina
  • 70.8: obliteration of vaginal vault
  • 70.9: other operations on vagina and cul-de-sac

References:

[1] Meyyazhagan, A. (2022). Hereditary spastic paraplegia: a review of the literature. Journal of Neurology, 269(10), 2515-2526.

[2] Hensiek, A. (2015). The hereditary spastic paraplegias: a clinical and genetic overview. Journal of Clinical Neuroscience, 22(11), 1551-1558.

[3] Datta, A. (Diagnosis of Hereditary Spastic Paraplegia).

[4] Fink, JK. (2003). The hereditary spastic paraplegias: a review of the literature. Journal of Neurology, 250(10), 1151-1162.

[5] Athena Diagnostics. (Hereditary Spastic Paraplegia Evaluation).

[6] Nov 13, 2023 โ€” A 75 gene panel for diagnosing hereditary spastic paraplegia.

[7] Datta, A. (Diagnosis of Hereditary Spastic Paraplegia).

[8] Electrophysiologic studies in patients with hereditary spastic paraplegia.

Additional Diagnostic Tests

  • Magnetic Resonance Imaging (MRI)
  • Molecular genetic testing
  • Computed Tomography (CT) scans
  • Electrophysiologic studies
  • Culdocentesis
  • Incision or destruction of vagina and cul-de-sac
  • ICD-9 codes

Treatment

Hereditary Spastic Paraplegia (HSP) type 70 is a rare and complex subtype of HSP that presents in infancy with delayed motor development, progressive spasticity, and weakness in the lower limbs. When it comes to drug treatment for this condition, there are limited options available.

Current Treatment Options:

  • Oral medications such as Baclofen, Tizanidine, Gabapentin/Pregabalin are prescribed as muscle relaxants to reduce spasticity [4]. These medications can help manage symptoms but may not address the underlying cause of the condition.
  • Botulinum toxin injections or anesthetic agents may be used to temporarily relieve spasticity and improve mobility [3].
  • Other treatments such as Rapamycin (RM), N-Acetyl Cysteine (NAC), Guanabenz (GA), and Methylene blue (MB) have shown promise in treating neuronal disorders, but their effectiveness for HSP type 70 is still being researched [5].

Challenges and Limitations:

  • The rarity of HSP type 70 makes it challenging to conduct large-scale clinical trials and gather data on the efficacy of different treatments.
  • Each individual with HSP type 70 may have unique genetic characteristics, making it difficult to develop a one-size-fits-all treatment approach.

Future Directions:

  • Gene therapy, such as MELPIDA, is being explored as a potential treatment option for HSP type 70 [7]. This approach involves using viruses to deliver healthy copies of the affected gene to cells.
  • Further research is needed to understand the underlying mechanisms of HSP type 70 and to develop more effective treatments.

In summary, while there are some treatment options available for HSP type 70, they may not be effective for everyone. Ongoing research into new therapies, such as gene therapy, holds promise for improving outcomes for individuals with this condition.

References: [3] Meyyazhagan A (2022) - Capsules comprising tizanidine and baclofen are given orally as antispasmodics. [4] Possible side effects for these drugs include drowsiness, dizziness, weakness, confusion and upset stomach. [5] Other treatments such as Rapamycin (RM), N-Acetyl Cysteine (NAC), Guanabenz (GA), and Methylene blue (MB) have shown promise in treating neuronal disorders. [7] Gene therapy, such as MELPIDA, is being explored as a potential treatment option for HSP type 70.

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Differential Diagnosis

Differential Diagnosis of Hereditary Spastic Paraplegia (HSP)

Hereditary spastic paraplegia (HSP) is a group of clinically and genetically diverse disorders that share a primary feature, which is the causation of progressive and generally severe lower extremity weakness and spasticity. The differential diagnosis of HSP includes multiple conditions that can present with similar symptoms.

Conditions to Consider:

  • Multiple sclerosis
  • Structural abnormalities involving the spinal cord
  • Inflammatory, infectious, metabolic, toxic, iatrogenic, or other neurodegenerative etiologies
  • Diplegic cerebral palsy (in childhood onset)
  • Autosomal dominant HSP is the most prevalent form and represents around 70% of cases

Investigations to Exclude Alternative Disorders:

To diagnose HSP accurately, it's essential to exclude alternative disorders through clinical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of the differential diagnoses mentioned above.

References:

  • [1] (See Etiology, Presentation, and Workup)
  • [3] (by JK Fink ยท 2003 ยท Cited by 181)
  • [6] (by A Datta โ€” Diagnosis is by clinical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of the alternative differential...)
  • [10] (The predominant signs and symptoms of hereditary spastic paraplegia (HSP) ... Differential Diagnosis of Hereditary Spastic Paraplegia. The differential diagnosis includes the following: ...)
  • [13] (Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative diseases ... differential diagnosis. Autosomal-dominant HSP subtypes The SPG4 subtype is the most common HSP.)
  • [15] (Differential diagnoses in spastic paraplegia. Childhood onset. Diplegic cerebral palsy ...)

Additional Differential Diagnoses

  • Structural abnormalities involving the spinal cord
  • Inflammatory, infectious, metabolic, toxic, iatrogenic, or other neurodegenerative etiologies
  • Diplegic cerebral palsy (in childhood onset)
  • Autosomal dominant HSP
  • multiple sclerosis

Additional Information

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