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Hereditary Spastic Paraplegia - A Progressive Gait Disorder

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Hereditary spastic paraplegia is a group of inherited diseases characterized by a progressive gait disorder. Read the article to know more.

Medically reviewed by

Dr. Abhishek Juneja

Published At May 15, 2023
Reviewed AtAugust 31, 2023

Introduction

Hereditary spastic paraplegias (HSP) are a class of inherited neurologic disorders characterized by difficulty walking due to muscle weakness and tightness in the legs. There are over 80 different HSP genetic types. Between different genetic types of HSP, there may be significant variation in the severity of leg weakness (ranging from none to marked), the degree of spasticity (ranging from minimal to severe), the occurrence of other neurologic symptoms, and differences in the nature and severity of symptoms between person to person with the same genetic type of HSP.

What Are Classifications of Hereditary Spastic Paraplegia?

HSP is classified into several types based on the following.

  • The mode of inheritance (dominant, recessive, X-linked, maternal).

  • The gene in which the mutation occurs.

  • The clinical syndrome (pattern of symptoms and neurologic findings).

When symptoms of HSP syndromes are limited to leg weakness, tightness, and urinary urgency, they are classified as "uncomplicated." When leg weakness and tightness (spasticity) are followed by other neurologic disturbances such as peripheral nerve impairment, muscle atrophy, or intellectual impairment, HSP syndromes are classified as "complicated." There are over 80 different genetic types of HSP. The chromosome locations ("loci") of HSP genes are known as "spastic paraplegia loci ("SPG") and are numbered in the order that they were discovered (for example, SPG1 through SPG80).

What Causes Hereditary Spastic Paraplegia?

Hereditary spastic paraplegias are inherited according to general inheritance rules and can be autosomal dominant, autosomal recessive, or X-linked recessive. The mode of inheritance directly affects the likelihood of inheriting the disorder. Over 70 genotypes have been identified, with over 50 genetic loci linked to this condition. Ten genes with autosomal dominant inheritance have been identified. One of these, SPG4, accounts for 50 percent of all genetically solved cases or roughly 25 percent of all HSP cases. Twelve genes are known to be inherited in an autosomal recessive manner. This latter group accounts for one-third of all cases.

What Are the Symptoms of Hereditary Spastic Paraplegia?

The most common symptom of HSP is progressive difficulty walking, though the severity varies. Patients typically have difficulty lifting their toes, causing them to drag when walking and catch them on stairs, uneven sidewalks, or curbs. Some patients may need a wheelchair in the future, while others may never require any assistive device.

Patients in the later stages have difficulty flexing the thigh muscle to raise the leg when walking. There is a loss of equilibrium. Muscles weaken while also becoming more toned. Some patients had a loss of sensation in the distal regions of their legs.

  • Early Onset: When symptoms appear in infancy or early onset, they may be non-progressive and resemble spastic diplegic cerebral palsy.

  • Late Onset: When symptoms first appear in late childhood or later, they typically progress slowly and steadily. Individuals with progressively worsening gait are unlikely to experience a "functional plateau" after several years (the rate of a further worsening of the gait is similar to that attributable to age).

Symptoms of uncomplicated (nonsyndromic) and complicated (syndromic) include:

1. Uncomplicated Hereditary Spastic Paraplegia: The neurologic impairment in uncomplicated (or pure) HSP is limited to progressive spastic weakness in the leg, hypertonic urinary bladder disturbance, and mild diminution of vibration sensation in the leg. Individuals with pure HSP experience the following symptoms:

  • Difficulty walking (may either be non-progressive or worsen insidiously).

  • Urinary urgency and leg paresthesias are possible.

  • Canes, walkers, and wheelchairs are frequently required.

  • Normal strength and dexterity of the hands.

  • No involvement of speech, chewing, or swallowing.

Though symptoms may be incapacitating, life expectancy is not reduced.

2. Complicated Hereditary Spastic Paraplegia: Complicated HSP is distinguished by the same impairments as uncomplicated HSP, along with other system involvement or other neurologic findings such as any of the following:

  • Intellectual disability.

  • Dementia.

  • Retinopathy.

  • Muscle atrophy.

  • Ichthyosis.

  • Extrapyramidal disturbance.

  • Peripheral neuropathy.

  • Ataxia.

  • Seizures.

How Is Hereditary Spastic Paraplegia Diagnosed?

Hereditary spastic paraplegia can be diagnosed with a thorough clinical examination and the identification of typical symptoms. However, other conditions that cause muscle stiffness and weakness, such as multiple sclerosis and cerebral palsy, must first be ruled out.

Tests that can help diagnose HSP include:

  • MRI (magnetic resonance imaging) of the brain and spine.

  • Cerebrospinal fluid analysis.

  • Nerve conduction tests.

  • EMG (electromyography).

  • Genetic testing can be necessary in some cases.

How Is Hereditary Spastic Paraplegia Treated?

No specific treatment is available to patients with hereditary spastic paraplegia that can help prevent, slow, or reverse progressive disability. However, treatment approaches for chronic paraplegia caused by other causes are beneficial.

Many common symptoms in people with HSP are caused indirectly by muscle spasticity, weakness, or hyperactive reflexes rather than directly by HSP. Some of the symptoms can be managed, making daily activities easier.

  • To help relieve spasticity, muscle relaxants such as Baclofen, Tizanidine, and Botulinum (Botox) injections can be used.

  • Regular physiotherapy is essential for improving and maintaining muscle strength and range of motion.

  • Occupational therapy can assist the individual in carrying out daily activities more easily and regaining independence.

  • An ankle-foot orthosis on the lower leg assists in straightening and controlling the ankle and foot and improving walking.

  • Surgery may be required on occasion to release tendons or shorten muscles.

What Are the Complications of Hereditary Spastic Paraplegia?

Hereditary spastic paraplegia can lead to the following complications:

  • Calf muscle shortening and hardening may occur; this can be prevented by regular physiotherapy.

  • Cold feet are a relatively common complication caused by nerve deterioration in the spine.

  • Extreme tiredness (fatigue) could be due to the extra effort required for walking and symptoms interfering with sleep.

  • Back and knee pain resulting from muscle weakness and walking difficulties.

  • Depression and stress.

Conclusion

Hereditary spastic paraplegia (HSP) refers to a group of inherited diseases characterized by a progressive gait disorder. People with hereditary spastic paraplegia have a mixed prognosis. Some people have severe symptoms and may require a wheelchair, while others have mild symptoms and do not require mobility aid. The condition does not affect life expectancy, and most people can lead relatively independent and active lives.

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Dr. Abhishek Juneja
Dr. Abhishek Juneja

Neurology

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