Hereditary Spastic Paraplegia : Procedures, Side effects, Recovery time, Costs and alternatives

Hereditary Spastic Paraplegia (HSP) is not a single disease, but it’s the name given to a group of inherited or genetic diseases that cause spasticity or tightness as well as weakness in the muscles of lower limbs. There are about 80 different diseases that fall under the Hereditary Spastic Paraplegia. They all have some variations in symptoms and severity, but the primary common symptom in all cases is that they cause stiffness and weakness in muscles of the legs.

The weakness and spasticity is progressive, meaning it worsens with time. It affects some individuals to the extent that they are unable to walk without support. Such patients may need a walking aid or even be confined to wheelchair. But there are also many patients who are affected by this condition and still live normal lives with the help of some medical care. The diseases are not known to be fatal and do not affect the overall lifespan of patients. Since this condition is actually a grouping of many diseases, so the symptoms will greatly vary. There is also much diversity in the way it affects individuals – some patients are severely affected while some only observe mild symptoms. The primary symptoms of this condition are:

• Weakening and stiffness in muscles of lower limbs
• Urinary problems, mainly a sense of urgency to urinate frequently
• Difficulty in walking and balancing The primary symptoms are always present in patients suffering from HSP but the severity of these symptoms will vary among affected individuals. There are some additional secondary symptoms of this condition, but these are not always observed in patients. They are:
• Epilepsy
• Intellectual disability, conditions where the brain doesn’t develop normally with age
• Ataxia, which are neurological conditions that affect the control and coordination of voluntary muscles
• Peripheral neuropathy, a condition that damages the peripheral nerves
• Impaired vision and hearing
• Difficulty with speech
• Problems in breathing and swallowing
• Muscle atrophy, also known as wasting of muscles. It’s a condition where the muscle starts to decrease in mass due to lack of movement or physical activity.

Some patients affected by HSP may only demonstrate primary symptoms, that is weakness in legs, difficulty walking and urinary problems. In such case, it is categorised as “pure” HSP syndrome. But if the additional symptoms mentioned above are also observed along with primary symptoms, then it is considered as “complicated” HSP syndrome. In some patients, even the primary symptoms are not noticeable for a considerable amount of time as the condition progresses very slowly.

No treatment procedure has yet been established to prevent, reduce, permanently cure or reverse the effects of Hereditary Spastic Paraplegia. The only possible course of treatment is management of signs and symptoms using medication and physical therapy. Before discussing the treatment, it is important to properly diagnose the condition first. Presence of symptoms and general tests are not sufficient to diagnose HSP because there are many other diseases that have very identical symptoms, such as spastic cerebral palsy. So differential diagnosis must also be conducted to rule out other disease as the cause of symptoms. But the most accurate diagnosis is done with the help of genetic testing.

Treatment mainly revolves around minimising the effects of symptoms with the help of medicines, and regular physical therapy. Depending on the variety and severity of the symptoms, different medications may be prescribed to patients with HSP. Spasticity and weakness in the legs are the two main symptoms that have significant effect on patients. To reduce stiffness/spasticity, medicines like Baclofen, Dantrolene and Tizanidine are commonly given to patients. These are muscle relaxants that reduces muscular contraction. But such medicines may sometimes make it even more difficult for patients to walk because reducing stiffness will also make the muscles even more weak.

Weakness in the muscles is managed with the help of physical therapy. The patient will have to perform regular exercises under the supervision of a trained physical therapist. The exercise routine will be decided by the therapist as per the patient’s condition. Along with that, other exercises like swimming and cycling is also recommended. With proper physical therapy, the motion and strength of muscles can be significantly improved.

Combination of physical therapy and medication is the only course of treatment for HSP, and anyone suffering from this condition is eligible for the treatment, as long as they are able to walk and have some amount of strength in the lower limbs.

Patients who have very little strength in leg muscles or have become completely paraplegic (lower body fully paralysed) due to HSP cannot be cured, and are not eligible for the treatment. Some patients who are able to walk may not be eligible for certain medications due to other conditions that can interact negatively with the medicines used for HSP.

The complications faced by patients suffering from this disorder are discussed below:

• Motor impairment in lower limbs HSP is a progressive disorder that worsens with time. As the stiffness and weakness in muscles become more prominent, patients will find it difficult to walk and maintain their balance. This will make it tough for individuals to walk for longer periods, or walk on rough terrains and uneven landscapes.
• Tiredness and fatigue Patients with HSP often fail to get proper sleep, due to muscular spasms at night and the urgency to urinate frequently. They also have to put in more effort to walk by overcoming the muscle weakness. So such people will often find themselves to be tired and fatigued most of the time.
• Gait disorders Gait disorder refers to abnormalities in the patient’s manner of walking. Patients with HSP will often find themselves tripping or slightly stumbling when they walk. This happens because the dorsiflexion movement (bending the feet upwards) is severely reduced in patients, so they will often land with the forward part of the foot while walking instead of the heel. They may also experience problems with movement of the knee, and involuntary crossing of legs while walking.
• Other complications The complications discussed above result mainly due to the primary symptoms. But if a person is diagnosed with complicated HSP syndrome, then there will be many other symptoms and conditions that will affect them. For example, many patients may suffer from intellectual disability or neurological disorders like epilepsy. This will affect the ability of such patients to have a normal lifestyle.

It isn’t possible to control how HSP affects the patients and to what severity will the symptoms develop. But as long as the patient has not become paraplegic (paralysed) in the lower limbs, some measures can be taken to manage this condition and reduce its effects in the patient’s daily life. These measure are listed below:

• Take the prescribed medicines regularly to manage and reduce the spasticity.
• Strictly follow the physical therapy routine to strengthen and train the muscles of the legs.
• Cannot participate in physical activities as compared to unaffected individuals.
• Patients may have to avoid activities wherelack of leg movement could compromise safety, such as driving.
• Necessary measures need to be taken to manage additional symptoms and disorders in patients with complicated HSP.

There is no way to completely cure HSP or fully recover from it. It is only possible to minimise the symptoms of this condition with long term management and therapy. But it doesn’t affect life expectancy so if the condition is managed properly, then patients can live a seemingly normal life with little complications.

There are more than 80 types of HSP, and each case will have some variation in symptoms. Treatment procedure will also be different as this condition doesn’t affect every patient in the same way. Also, the treatment - both medication and physical therapy - needs to be continued for long term for best results. Due to these reasons, it is not possible to come up with an exact or even average figure to estimate the cost of treatment for this condition.

Treatment of HSP includes managing the symptoms throughout the patient’s lifespan. Completely curing this disorder is not possible. Hence, the results of treatment are not permanent.

At present, regular physical therapy and medications are the available form of treatment for HSP. Even this treatment can only help to manage the condition, but cannot prevent, cure or slow down the effects of this condition. No other forms of treatment are available as of yet. But progressive research into stem cells and genetic engineering technology could possibly present better alternative treatments in the future.