Hereditary spastic paraplegia

Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Symptoms gradually get worse over time.

It's also known as familial spastic paraparesis or Strümpell-Lorrain syndrome.

It's difficult to know exactly how many people have hereditary spastic paraplegia because it's often misdiagnosed.

Estimates range from 1 in 11,000 people to 1 in 77,000 people.

Symptoms of hereditary spastic paraplegia

The severity and progression of symptoms will vary from person to person.

About 90% of people with hereditary spastic paraplegia have what's known as a "pure form" of the condition.

This means their symptoms are mainly confined to lower limb weakness and involuntary spasms and muscle stiffness (spasticity).

其余的10％具有复杂或复杂的状况形式。

This means they have other symptoms in addition to the muscle weakness and spasticity.

They may have a wide range of symptoms.

纯粹的遗传痉挛性截瘫

The main symptoms of pure hereditary spastic paraplegia are:

• 腿部逐渐弱点
• 增加肌肉张力和刚度（痉挛）
• 撒尿问题 - 例如迫切需要撒尿，即使膀胱不满
• a lack of sensation in the feet (sometimes)

Children may develop leg stiffness and problems walking, such as stumbling and tripping, particularly on uneven ground.

这是因为由于臀部肌肉弱，他们很难向上弯曲脚趾。

Some people may eventually need to use awalking cane or a wheelchairto help them get around.

Others may not need to use any type of mobility equipment.

Complicated hereditary spastic paraplegia

In complicated hereditary spastic paraplegia, additional symptoms may include:

• nerve damage in the feet or other extremities(peripheral neuropathy)
• epilepsy
• problems with balance, co-ordination and speech(ataxia)
• eye problems – such as damage to the retina (retinopathy) and damage to the optic nerve (optic neuropathy)
• dementia
• ichthyosis– a condition that causes widespread and persistent thick, dry "fish-scale" skin
• learning and developmental problems
• hearing loss
• speech, breathing orswallowing problems

是什么导致遗传性痉挛性截瘫？

Most people with pure hereditary spastic paraplegia will have inherited a faulty gene from 1 of their parents.

People with the complicated form of the condition will have usually inherited a faulty gene from both parents.

The gene abnormality causes the long nerves in the spine to deteriorate.

These nerves normally control muscle tone and movement in the lower body.

Diagnosing hereditary spastic paraplegia

Hereditary spastic paraplegia is diagnosed after a thorough clinical examination and the identification of typical symptoms.

Other conditions that cause mobility problems and muscle stiffness and weakness, such asmultiple sclerosis和脑瘫, need to be ruled out first.

A number of specialised tests may be used during diagnosis, includingMRI scansof the brain and spine, cerebrospinal fluid analysis,nerve conduction tests and an EMG.

In some cases,基因检测may also be needed.

Treating hereditary spastic paraplegia

It's not possible to prevent, slow or reverse hereditary spastic paraplegia, but some of the symptoms can be managed so day-to-day activities become easier.

例如：

• muscle relaxants, such as baclofen, tizandine and botulinum (Botox) injections, can be used to help relieve spasticity
• regularphysiotherapyis important for helping improve and maintain muscle strength and range of movement
• 职业治疗can help the person carry out their daily activities more easily and regain as much independence as possible
• anankle-foot orthosis可以戴在下腿上，以帮助拉直和控制脚踝和脚，并改善步行
• surgery may occasionally be needed to release tendons or shortened muscles

Complications of hereditary spastic paraplegia

Possible complications of hereditary spastic paraplegia include:

• shortening and hardening of the calf muscles – regular physiotherapy may help prevent this
• cold feet – this is fairly common and occurs as a result of the deterioration of the nerves in the spine
• extreme tiredness (fatigue) – this may be because of the extra effort needed for walking, and symptoms interrupting sleep
• 背部和膝盖疼痛 - 由肌肉无力和步行问题引起
• 压力和沮丧

Outlook

遗传性痉挛性截瘫患者的前景各不相同。

Some people are severely affected and need a wheelchair, while others have mild symptoms and do not need to use a mobility aid.

The condition does not usually affect life expectancy, and most people are able to lead relatively independent and active lives.

National Congenital Anomaly and Rare Disease Registration Service

If you or your child have hereditary spastic paraplegia, your clinical team may pass information about you or your child on to theNational Congenital Anomaly and Rare Disease Registration Service (NCARDRS).

The NCARDRS helps scientists identify more effective ways of treating or preventing rare conditions.

You can opt out of the register at any time.