Spastic paraplegia type 2

What it is, symptoms and effects

From: MedlinePlus Genetics, National Library of Medicine

Spastic paraplegia type 2 belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by muscle stiffness (spasticity) and weakness that worsens over time and paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure (also called uncomplicated) types only involve the legs. The complex (also called complicated) types involve the lower limbs and can also affect the upper limbs to a lesser degree. The complex type can also affect the structure or function of the brain. It can also affect the network of nerves (the peripheral nervous system) that connects the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound.

Spastic paraplegia type 2 can be classified as either pure or complex, depending on the signs and symptoms. The pure type of this condition is more common. The complex type of spastic paraplegia type 2 is sometimes called hypomyelination of early myelinating structures (HEMS).

People with the pure type of spastic paraplegia type 2 experience spasticity in the leg muscles. Over time, affected individuals may lose the ability to walk. Some affected individuals may also have poor bladder control. The signs and symptoms of spastic paraplegia type 2 usually appear between the ages of 1 and 5 years, but it can develop later in life. Individuals with spastic paraplegia type 2 typically have a normal lifespan.

In addition to leg spasticity and poor bladder control, people with HEMS can also experience problems with movement and balance (ataxia); involuntary movements of the eyes (nystagmus); and involuntary, rhythmic shaking (tremor). They may also have mild intellectual disabilities and degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. The signs and symptoms of HEMS also typically appear between the ages of 1 and 5 years. Individuals with HEMS usually survive into mid to late adulthood.

ORPHANET DEFINITION A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.

Frequency in the source

From: MedlinePlus Genetics, National Library of Medicine

Reported case(s): 100.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Babinski sign · Very frequent (99-80%)

Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.

Hyperreflexia · Very frequent (99-80%)

Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.

Muscle weakness · Very frequent (99-80%)

Reduced strength of muscles.

Spastic gait · Very frequent (99-80%)

Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.

Spasticity · Very frequent (99-80%)

A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.

Abnormality of extrapyramidal motor function · Frequent (79-30%)

A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).

Bowel incontinence · Frequent (79-30%)

Involuntary fecal soiling in adults and children who have usually already been toilet trained.

Intellectual disability · Frequent (79-30%)

The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.

Optic atrophy · Frequent (79-30%)

Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.

Spastic/hyperactive bladder · Frequent (79-30%)

Ataxia · Occasional (29-5%)

Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).

Dysarthria · Occasional (29-5%)

Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.

Limitation of joint mobility · Occasional (29-5%)

A reduction in the freedom of movement of one or more joints.

Nystagmus · Occasional (29-5%)

Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

Other findings in the same source

From: Orphanet

Additional reported features include Pulmonary embolism (Occasional (29-5%)); Recurrent respiratory infections (Occasional (29-5%)); Sensory neuropathy (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: MedlinePlus Genetics, National Library of Medicine

Childhood

Inheritance in the source

From: MedlinePlus Genetics, National Library of Medicine

X-linked

Frequency and the population described

From: MedlinePlus Genetics, National Library of Medicine

Reported case(s): 100.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Which doctor should you see?

The suggested department for discussing Spastic paraplegia type 2 is Neurology, with a neurologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which nervous-system findings help explain the symptoms?
• Would an assessment of walking, communication or daily function be helpful?
• Are rehabilitation or other specialist services relevant?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Spastic paraplegia type 2. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.