hereditary spastic paraplegia 82

Hereditary Spastic Paraplegia 82 (SPG82) is a progressive neurologic disorder characterized by global developmental delay apparent from infancy, significant motor impairment, and progressive spasticity mainly affecting the lower limbs [1]. Some patients never achieve walking, whereas others lose the ability to walk or walk with an unsteady gait [11].

The prominent features of this pathological condition are progressive spasticity and weakness of the lower limbs [6]. This disorder is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause this complex hereditary spastic paraplegia [2]. The symptoms of SPG82 can vary in severity and progression, but they typically worsen over time. Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that present with spastic diplegia are among the most common "mimics" of cerebral palsy [15].

It's essential to note that SPG82 is a rare condition, and more research is needed to fully understand its characteristics and implications. However, studies have shown that mutations in human and/or mouse homologs are associated with this disease [8].

Hereditary Spastic Paraplegia (HSP) 82, also known as autosomal recessive spastic paraplegia 82, is a rare genetic disorder that affects the nervous system. The signs and symptoms of HSP 82 can vary from person to person, but here are some common features:

• Progressive gait difficulty: Affected individuals may experience a gradual worsening of their walking ability, making it difficult to walk or stand.
• Hyperreflexia: Exaggerated reflexes in the legs and arms can be observed.
• Clonus: Muscle spasms or tremors can occur, particularly in the legs.
• Extensor plantar responses: A characteristic sign where the foot is extended when the sole of the foot is stimulated.

Other symptoms may include:

• Muscle wasting (amyotrophy): Gradual loss of muscle mass and strength in the affected limbs.
• Reduced bladder control: Affected individuals may experience urinary incontinence or difficulty controlling their bladder.
• High arches of the feet (pes cavus): A condition where the foot has a high arch, which can lead to discomfort and difficulties with walking.

It's essential to note that not all individuals with HSP 82 will exhibit these symptoms, and the severity of the condition can vary greatly from person to person. [7][8][9]

References: [7] - Clinical signs and symptoms observed in spastic paraplegia 82, autosomal recessive. Source: EFO, MONDO, HPO. [8] - Sep 1, 2017 — They may also have muscle wasting (amyotrophy), reduced bladder control, or high arches of the feet (pes cavus ). The signs and symptoms of ... [9] - Pure HSP is characterised primarily by symptoms such as hyperreflexia, hypertonicity or contralateral limb spasticity, bladder incontinence, and tactile sensory ...

Hereditary Spastic Paraplegia (HSP) 82, also known as Autosomal Recessive Spastic Paraplegia-82 (SPG82), is a rare genetic disorder characterized by progressive neurologic deterioration. Diagnostic tests for HSP 82 are crucial for accurate diagnosis and management of the condition.

Genetic Testing

Genetic testing is often performed to diagnose HSP 82. This involves analyzing genes associated with the condition, such as [12]. The Invitae Hereditary Spastic Paraplegia Comprehensive Panel analyzes genes associated with hereditary spastic paraplegia (HSP), including those linked to SPG82 [11].

Multiplex Ligation-Dependent Probe Amplification (MLPA)

MLPA is a technique used to detect gene deletions or duplications in genes associated with HSP, such as SPAST/SPG4 and other cases that require further investigation [8]. This test can help identify genetic mutations responsible for the condition.

Clinical Evaluation

A thorough

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 [8].
• Botulinum toxin injections or anesthetics may be used to relieve muscle spasms and pain [3].

Other treatments:

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

It's essential to note that while these treatments can help manage symptoms, they do not prevent or reverse the progression of HSP. The effectiveness of these treatments may vary depending on the individual case.

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

Differential Diagnosis of Hereditary Spastic Paraplegia

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. When considering the differential diagnosis of HSP, it's essential to consider various conditions that may present with similar symptoms.

Conditions to Consider in Differential Diagnosis

• Cerebral Palsy: Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that present with spastic diplegia are among the most common "mimics" of cerebral palsy.
• Inborn Errors of Metabolism: Certain metabolic disorders, such as mitochondrial diseases, can also present with spasticity and weakness.
• Spinal Cord Disorders: Conditions like spinal muscular atrophy, Friedreich's ataxia, and other hereditary ataxias can mimic HSP symptoms.
• Neurodegenerative Diseases: Other neurodegenerative disorders, such as amyotrophic lateral sclerosis (ALS) and multiple system atrophy, may also be considered in the differential diagnosis.

Key Considerations

When differentiating between these conditions, it's crucial to consider factors like:

• Age of onset: HSP typically presents in childhood or adolescence, while other conditions may have a later age of onset.
• Progression rate: The rate at which symptoms progress can also help differentiate between conditions.
• Presence of additional symptoms: Certain conditions, such as cerebral palsy, may be accompanied by additional symptoms like seizures or developmental delays.

References

• Müller vom Hagen J, Karle KN, Schüle R, Krägeloh-Mann I (2008). "Hereditary spastic paraplegia". In: Handbook of Clinical Neurology. Vol. 92. pp. 81–93.
• Huang SJ, Amendola LM, Sternen DL (1999). "Variation among DNA banking consent forms: points for clinicians to bank on". American Journal of Medical Genetics 82 (1): 132–9.

Citations:

[10][11][12]