hereditary spastic paraplegia 24

Hereditary Spastic Paraplegia 24 (HSP24) is a rare form of the disease characterized by lower limb spasticity, gait disturbances, scissor gait, tiptoe walking, and other symptoms. It is an autosomal recessive inherited disorder, meaning that it is passed down from parents to offspring in a specific pattern.

Key Features:

• Onset in infancy or early childhood
• Lower limb spasticity and stiffness
• Gait disturbances, including scissor gait and tiptoe walking
• Progressive weakness and spasticity of the lower limbs

Inheritance Pattern: HSP24 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. Carriers of the mutation may not show symptoms but can pass the mutated gene to their offspring.

Prevalence: HSP24 is a rare form of hereditary spastic paraplegia, and its exact prevalence is unknown. However, it is estimated to affect a small number of people worldwide.

References:

• [14] describes HSP24 as a very rare pure form of spastic paraplegia with characteristics of onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking.
• [7] mentions HSP24 as a rare form of the disease characterized by lower limb spasticity, gait disturbances, scissor gait, tiptoe walking.

Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders that primarily affect the legs. The signs and symptoms of HSP can vary from person to person, but they often include:

• Spastic leg paresis: Weakness or stiffness in the legs, which can lead to progressive gait difficulty
• Hyperreflexia: Increased reflexes in the legs
• Clonus: Involuntary muscle contractions in the legs
• Extensor plantar responses: A reflexive response of the foot that involves extending the toes and pulling them back towards the shin

In addition to these symptoms, people with HSP may also experience:

• Urinary disturbances: Difficulty controlling urination or experiencing urinary urgency
• Decreased sensation: Mild impairment of vibration sensation in the toes
• Upper limb involvement: Weakness, poor coordination, or hyperreflexia in the upper limbs (although this is less common)

It's worth noting that the symptoms of HSP can progress slowly over time, and affected individuals may eventually need a cane, walker, or wheelchair to aid mobility. [1][2][3][4][5]

References: [1] - Complicated hereditary spastic paraplegia: About 10% of people with hereditary spastic paraplegia have the complicated type. Complicated symptoms include spasticity and weakness, in addition to a wide range of symptoms that impact your brain , spinal cord and nerves (neurological symptoms). [2] - 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. [3] - 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. [4] - 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. [5] - Weakness most commonly occurs in the lower limbs, but mild upper limb weakness may also occur. The upper limbs may also experience poor coordination and ...

Hereditary Spastic Paraplegia (HSP) can be diagnosed through a combination of clinical evaluation, neurological examination, and genetic testing.

Clinical Evaluation

A thorough medical history and physical examination are essential in diagnosing HSP. Your healthcare provider will assess your symptoms, such as muscle weakness and tightness in the legs, and perform a neurological exam to evaluate your reflexes, coordination, and balance [1].

Genetic Testing

Genetic testing is a crucial diagnostic tool for HSP. It involves analyzing DNA samples from individuals with suspected HSP to identify mutations in genes associated with the condition [2]. A 75-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of spastic paraplegia [3].

Other Diagnostic Tests

In addition to genetic testing, other diagnostic tests may be employed to rule out other conditions and confirm HSP. These include:

• Brain and spine MRI to evaluate the extent of nerve damage
• Biomarker dosages to assess the severity of the condition
• Family history evaluation to identify inherited patterns [4]

Comprehensive Diagnostic Panels

Some laboratories offer comprehensive diagnostic panels that include genetic testing for multiple genes associated with HSP. For example, the Invitae Hereditary Spastic Paraplegia Comprehensive Panel analyzes 24 genes associated with HSP [5].

References:

[1] Context result 8 [2] Context result 4 [3] Context result 4 [4] Context result 8 [5] Context result 11

Current Drug Treatments for Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders characterized by progressive spasticity and weakness in the lower limbs. While there is no cure for HSP, various drug treatments can help manage symptoms and improve quality of life.

Antispasmodic Drugs

• Baclofen: A GABA receptor agonist that can reduce muscle tone and spasticity [12][13]. It is often used as a first-line treatment for HSP.
• Tizanidine: An alpha-2 adrenergic agonist that can also reduce muscle tone and spasticity [13].
• Oxybutynin: A muscarinic receptor antagonist that can help control urine urgency and infection in patients with HSP [13].

Muscle Relaxants

• Gabapentin/Pregabalin: These anticonvulsant medications can also be used as muscle relaxants to reduce spasticity [15].

Other Treatments

• Botulinum toxin injections: Can be used to target specific muscles and reduce spasticity.
• Physical therapy and rehabilitation: A crucial part of HSP management, helping patients maintain mobility and independence.

It's essential to note that each patient with HSP is unique, and the most effective treatment plan may involve a combination of these medications and therapies. Consultation with a healthcare professional is necessary to determine the best course of treatment for individual cases.

References: [12] Oct 16, 2024 — Antispasmodic drugs may help the patient to reduce the spasticity and may allow weakened muscles to be targeted in order to improve the ... [13] by A Meyyazhagan · 2022 · Cited by 90 — Capsules comprising tizanidine and baclofen are given orally as antispasmodics in HSP conditions, and oxybutynin is given to control urine urgency and infection ... [15] Oral medications such as Baclofen, Tizanidine, Gabapentin/Pregabalin are prescribed as muscle relaxants to reduce spasticity.