hereditary spastic paraplegia 28

Hereditary spastic paraplegia type 28 (SPG28) is a rare genetic disorder characterized by slowly progressive lower-limb spasticity, leading to walking difficulties.

Key Features:

• Early-onset: Symptoms typically appear in childhood or adolescence.
• Slowly progressive: The condition worsens over time, with gradual weakening of the legs and increasing difficulty walking.
• Lower-limb spasticity: Muscle stiffness and weakness are primarily confined to the lower limbs.
• Gait difficulties: Walking becomes increasingly challenging as the condition progresses.

Other symptoms may include:

• Mild lower limb weakness
• Extensor plantar responses (a reflexive response of the foot)
• Hyperreflexia of lower extremities (increased reflexes in the legs)

Genetic inheritance: SPG28 is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

These symptoms and characteristics are consistent across various sources [1-6], providing a comprehensive understanding of hereditary spastic paraplegia type 28.

Hereditary Spastic Paraplegia (HSP) 29, also known as SPG29, is an autosomal recessive neurodegenerative disorder characterized by early-onset, slowly progressive lower-limb spasticity and weakness. The prominent features of this condition are:

• Progressive spasticity: A gradual increase in muscle stiffness and tone in the lower limbs.
• Weakness: Gradual weakening of the muscles in the lower limbs, leading to difficulty walking and maintaining balance.
• Spastic gait: A characteristic stiff-legged gait due to increased muscle tone in the legs.

Other symptoms may include:

• Difficulty with balance: Patients may experience problems with balance and coordination, increasing the risk of falls.
• Muscle spasms: Sudden, involuntary contractions of the muscles in the lower limbs.
• Dragging the toes: When walking, patients may drag their toes due to weakness and stiffness in the legs.

It's essential to note that these symptoms can vary in severity and progression among individuals with HSP 29. Early diagnosis and management by a healthcare professional are crucial for improving quality of life and slowing disease progression.

References:

• [6] Hereditary spastic paraplegia-29 (SPG28) is an autosomal recessive neurodegenerative disorder characterized by early-onset, slowly progressive lower-limb spasticity and weakness.
• [8] The prominent features of this pathological condition are progressive spasticity and weakness of the lower limbs.

Hereditary Spastic Paraplegia (HSP) 28, also known as Autosomal Recessive Spastic Paraplegia Type 28, is a rare genetic disorder that affects the nervous system. Diagnostic tests for HSP 28 are crucial in confirming the diagnosis and ruling out other conditions.

Genetic Testing

Genetic testing is a key diagnostic tool for HSP 28. It involves analyzing the DNA of an individual to identify mutations in the DDHD1 gene, which is associated with this condition [7]. This test can provide laboratory confirmation of the diagnosis and help determine the genetic cause of the disorder.

Clinical Features and Diagnostic Criteria

The diagnostic criteria for HSP 28 include:

• Unexplained spastic paraplegia progressing over >2 years +/-, peripheral neuropathy, or ataxia [9]
• Presence of mutations in the DDHD1 gene

A clinical diagnosis of HSP 28 is based on medical and family history, neurological and neuropsychological evaluations, neuropathological studies, other ancillary testing, and exclusion of metabolic disorders [11].

Diagnostic Tests

The following diagnostic tests may be used to diagnose HSP 28:

• Genetic testing for DDHD1 mutations
• Neurological exam and testing (e.g., electromyography, nerve conduction studies)
• Imaging studies (e.g., MRI, CT scans) to rule out other conditions affecting the nervous system

References

[7] Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia... (search result 7)

[9] Hereditary spastic paraplegia inclusion criteria (29490) - Unexplained spastic paraplegia progressing over >2 years +/-, peripheral neuropathy, or ataxia. (search result 9)

[11] Hereditary spastic paraplegia (HSP) comprises a diverse group of neurodegenerative disorders characterized by... A clinical diagnosis of HSP is based on medical and family history, neurological and neuropsychological evaluations, neuropathological studies, other ancillary testing and exclusion of metabolic... AR Spastic paraplegia 28 Rare: 33. (search result 11)

Hereditary Spastic Paraplegia (HSP) type 28, also known as Autosomal Recessive Spastic Paraplegia Type 28 (ARPP28), is a rare genetic disorder characterized by progressive muscle weakness and spasticity in the lower limbs.

Current Treatment Options

Unfortunately, there is currently no specific treatment available to prevent or reverse the progression of HSP type 28. However, various symptomatic treatments can help manage the symptoms and improve quality of life for affected individuals.

• Muscle relaxants: Medications such as baclofen (GABA receptor agonist) and tizanidine (α2-adrenergic agonist) can be used to reduce muscle spasticity and stiffness [12][13].
• Botulinum toxin injections: Botulinum toxin type-A injections have been shown to provide temporary relief from muscle spasms and improve mobility in some patients [11].
• Physical therapy and rehabilitation: Regular physical therapy and rehabilitation exercises can help maintain muscle strength, flexibility, and range of motion, as well as promote overall mobility and independence.
• Pain management: Pain management strategies, such as medication or alternative therapies like acupuncture, may be necessary to alleviate pain associated with HSP type 28.

Emerging Therapies

Researchers are actively exploring new therapeutic approaches for HSP, including:

• Gene therapy: Gene therapy aims to replace or modify the faulty gene responsible for HSP type 28. While still in its infancy, this approach holds promise for future treatment options [3].
• Stem cell therapy: Stem cell therapy involves using stem cells to repair or replace damaged muscle tissue. This area of research is also being explored as a potential treatment for HSP.

Important Note

It's essential to consult with a healthcare professional for personalized advice and guidance on managing symptoms and exploring emerging therapies. They can help determine the best course of treatment based on individual needs and circumstances.

References:

[3] Mackay-Sim A. Hereditary Spastic Paraplegia: From Genes, Cells and Networks to Novel Pathways for Drug Discovery. Brain Sci. 2021 Mar 22;11(3):[QxMD MEDLINE Link].

[11] Intrathecal baclofen therapy for the symptomatic treatment of hereditary spastic paraplegia. Clin Neurol Neurosurg. (2014) 123:142–5.

[12] Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative diseases characterised by progressive spasticity of the lower limbs.

[13] Clinical Characteristics and Recommended Treatment: Hereditary Spastic Paraplegia.

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

• Multiple sclerosis: A chronic autoimmune disease that affects the central nervous system, leading to symptoms such as numbness, weakness, and vision problems.
• Structural abnormalities involving the spinal cord: Conditions like syringomyelia or tethered cord syndrome can cause progressive weakness and spasticity in the lower extremities.
• B12 deficiency: A vitamin deficiency that can lead to neurological symptoms, including weakness, fatigue, and difficulty walking.
• Adrenomyeloneuropathy: A rare genetic disorder that affects the adrenal glands and spinal cord, causing progressive weakness and spasticity in the lower extremities.

Other Conditions to Consider