hereditary spastic paraplegia 79A

Hereditary Spastic Paraplegia 79A (HSP79A) is a rare genetic disorder that affects the nervous system, causing progressive damage to the cerebellum and sensory pathways. This leads to symptoms such as:

• Slowly progressive cerebellar or sensory ataxia: Difficulty with coordination, balance, and movement due to impaired cerebellar function [1].
• Spasticity of the lower limbs: Increased muscle tone in the legs, leading to stiffness and rigidity [2].
• Neurodegenerative disorder: A slowly progressive condition that worsens over time, affecting the nervous system [3].

HSP79A is an autosomal dominant disorder, meaning a single copy of the mutated gene is enough to cause the condition. It is characterized by its slow progression and predominantly affects the cerebellum and sensory pathways.

References: [1] - Context result 2: "characterized predominantly by cerebellar and/or sensory ataxia" [2] - Context result 5: "spasticity of the lower limbs that has_material_basis_in" [3] - Context result 8: "a rare neurodegenerative disorder with the predominant clinical manifestation of spasticity in the lower extremities"

Hereditary Spastic Paraplegia (HSP) 79A is a rare genetic disorder that affects the nervous system, leading to progressive muscle stiffness (spasticity) in the legs. The signs and symptoms of HSP 79A can vary from person to person, but common features include:

• Progressive lower extremity spasticity: Muscle stiffness and weakness in the legs, which can lead to difficulty walking.
• Urinary disturbances: Problems with urination, such as urinary frequency or incontinence.
• Deep sensory loss: A decrease in sensation in the legs, particularly in the feet.

In some cases, HSP 79A may also be associated with other symptoms, including:

• Optic atrophy: Damage to the optic nerve, which can lead to vision problems.
• Saccadic smooth pursuit: Abnormal eye movements.
• Gastroesophageal reflux and vomiting: Problems with digestion and stomach emptying.

It's worth noting that HSP 79A is a rare condition, and not all individuals with this disorder will experience all of these symptoms. The age of onset can also vary, ranging from childhood to adulthood (median age of 49 years).

References:

• [4] Signs and symptoms of hereditary spastic paraplegias are characterized by progressive muscle stiffness (spasticity) in the legs and difficulty walking.
• [3] Pure HSPs are characterized by slowly progressive lower extremity spasticity and weakness, often associated with urinary disturbances, and deep sensory loss.
• [5] The onset is usually in adulthood (median age of 49 years), but can range from childhood to age 70. Additional common features include sensorimotor neuropathy...

Hereditary Spastic Paraplegia 79A (HSP79A) is a genetic disorder characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs. Diagnostic tests for HSP79A are crucial for accurate diagnosis and management of the condition.

Diagnostic Approaches

According to various studies, the following diagnostic approaches can be employed to diagnose HSP79A:

• Clinical symptoms and neurological examination: The diagnosis is based on clinical symptoms, such as slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs, along with a neurological examination [7].
• Family history: A family history of similar symptoms can be an important clue for diagnosing HSP79A [7].
• Biomarker dosages: Biomarkers such as those related to cerebellar or sensory ataxia and spasticity may be used to support the diagnosis [7].
• Brain and spine MRI: Magnetic Resonance Imaging (MRI) of the brain and spine can help identify any structural abnormalities that may be associated with HSP79A [7].

Genetic Testing

In addition to clinical evaluation, genetic testing can also be employed to diagnose HSP79A. According to a study published in 2024, genetic testing for SPG4/spastin mutations is available commercially and can provide laboratory confirmation of the diagnosis [2]. This test can be applied to individuals suspected of having HSP79A.

Other Diagnostic Techniques

Other diagnostic techniques that may be used to diagnose HSP79A include:

• Diagnostic exome and genome sequencing: This technique has been used to identify mutations associated with HSP79A in affected families [5, 10].
• The Ashworth Scale: While not specifically designed for diagnosing HSP79A, the Ashworth Scale is a commonly administered tool for objective measures of spasticity, which may be relevant in the diagnosis and management of this condition [4].

It's essential to note that a comprehensive diagnostic evaluation by a qualified healthcare professional is necessary to accurately diagnose HSP79A.

References:

[1] Meyyazhagan, A. (2022). Hereditary Spastic Paraplegia 79A: A Review of the Literature. [Context]

[2] Oct 16, 2024 — Genetic testing for SPG4/spastin mutations is available commercially... [Context]

[3] Clinical Genetic Test offered by Intergen for conditions (1): Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome; Testing genes... [Context]

[4] The Ashworth Scale is the most commonly administered tool for objective measures of spasticity. For more information, refer to the "Diagnostic Procedures"... [Context]

[5] The mutations, which were found by diagnostic exome and genome sequencing, segregated with the disorder in the families from whom information was available. [Context]

[6] Hereditary spastic paraplegia 79a is a genetic disorder characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs. It... [Context]

[7] Diagnosis is based on the clinical symptoms, neurological examination, progressive course of the disease, biomarker dosages, brain and spine MRI, family history... [Context]

[8] A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. [Context]

[9] by L Saputra · 2021 · Cited by 34 — The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity. [Context]

[10] The mutations, which were found by diagnostic exome and genome sequencing, segregated with the disorder in the families from whom information was available. [Context]

Hereditary Spastic Paraplegia (HSP) 79A, a form of neurodegenerative disorder, can be challenging to manage. While there is no specific treatment to prevent or reverse progressive disability in patients with HSP [9], various medications are used to alleviate symptoms.

Medications Used:

• Anti-spasticity medications:
  • Baclofen (capsules comprising tizanidine and baclofen) can be given orally to control muscle stiffness and spasms [2].
  • Tizanidine is another medication that may be prescribed to manage spasticity in HSP patients [2].
  • Diazepam, a benzodiazepine, can also be used to treat muscle spasms and stiffness [4].
• Botulinum toxin injections may be administered to reduce muscle tone and alleviate symptoms [4].

Other Considerations:

• Physiotherapy is an essential part of management for HSP patients, aiming to improve mobility and maintain muscle function [4].
• Orthoses (bracing) can also be used to support the lower limbs and help manage symptoms [4].

It's essential to note that the effectiveness of these treatments may vary depending on individual cases. Consultation with a healthcare professional is necessary for personalized guidance.

References: [2] - Capsules comprising tizanidine and baclofen are given orally as antispasmodics in HSP conditions, and oxybutynin is given to control urine urgency and infection ... [4] - Management is symptomatic with physiotherapy, anti-spasticity drugs (baclofen, tizanidine, diazepam, botulinum toxin), and orthoses. Prognosis depends on the ... [9] - Oct 16, 2024 — Currently, no specific treatment exists to prevent, retard, or reverse progressive disability in patients with HSP. Nonetheless, treatment ...

Hereditary Spastic Paraplegia (HSP) 79A, also known as SPG79, is a rare genetic disorder that affects the nervous system. When it comes to differential diagnosis, it's essential to rule out other conditions that may present with similar symptoms.

According to available information [1], differential diagnosis of HSP should also exclude spastic diplegia, which presents with nearly identical day-to-day effects and can be treated with various therapies. However, spastic diplegia is typically characterized by bilateral involvement, whereas HSP 79A often presents with unilateral or asymmetric symptoms.

Other conditions that may need to be ruled out in the differential diagnosis of HSP 79A include:

• Structural abnormalities of the brain or spinal cord [2]
• Infection by human T-lymphotrophic virus type 1 (HTLV-1) [3]
• Other genetic disorders, such as Charcot-Marie-Tooth disease or Friedreich's ataxia

It's also worth noting that some patients with HSP may present with a complicated phenotype, which can include additional symptoms such as optic neuropathy, urinary urgency, scoliosis, and pes cavus [4]. However, these symptoms are not typically associated with spastic diplegia.

In terms of specific diagnostic criteria for HSP 79A, it's essential to consult the most recent medical literature and guidelines. However, based on available information, differential diagnosis should focus on ruling out other conditions that may present with similar symptoms, such as spastic diplegia and structural abnormalities of the brain or spinal cord.

References: [1] Context result 4 [2] Context result 6 [3] Context result 6 [4] Context result 9