Neurofibromatosis: Symptoms, Types & Physiotherapy Help

Neurofibromatosis

What is Neurofibromatosis ?

Neurofibromatosis (NF) is a group of genetic disorders that primarily affect the nervous system, causing tumors to grow on nerves throughout the body. While these tumors are usually non-cancerous (benign), they can cause a wide range of symptoms depending on their location and size.

There are three main types of neurofibromatosis:-

Types and Causes

All types of neurofibromatosis are caused by genetic mutations, which can be inherited from a parent or occur spontaneously (without a family history).

Neurofibromatosis Type 1 (NF1):
- Causes: Caused by a mutation in the NF1 gene, located on chromosome 17. This gene is responsible for producing a protein called neurofibromin, which acts as a tumor suppressor. A mutation in this gene leads to a loss of neurofibromin function, allowing cells to grow uncontrollably and form tumors. About 50% of NF1 cases are spontaneous mutations.
- Prevalence: It is the most common type, affecting approximately 1 in 3,000 to 4,000 people.
Neurofibromatosis Type 2 (NF2-related schwannomatosis, formerly known as Neurofibromatosis Type 2):
- Causes: Caused by a mutation in the NF2 gene, located on chromosome 22. This gene produces a protein called merlin (or schwannomin), another tumor suppressor. A mutation in the NF2 gene leads to a loss of merlin function, contributing to tumor formation. Many cases of NF2 also result from spontaneous mutations.
- Prevalence: Much rarer than NF1, affecting about 1 in 25,000 to 40,000 people.
Schwannomatosis:
- Causes: Can be caused by mutations in the SMARCB1 or LZTR1 genes, both on chromosome 22. These genes are also involved in tumor suppression. In many cases, the genetic cause remains unknown.
- Prevalence: The rarest type, with an incidence of about 1 in 40,000 people.

All three types are inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene is needed for the condition to develop.

Symptoms

Symptoms vary widely depending on the type and the location and size of the tumors.

Neurofibromatosis Type 1 (NF1) Symptoms:

Often appear in childhood and can progress over time.

Neurofibromas: Soft, pea-sized or larger, non-cancerous bumps that grow on or under the skin, or on nerves deeper in the body.
Plexiform neurofibromas: Larger tumors that involve multiple nerves and surrounding tissues, which can be disfiguring and sometimes become cancerous (malignant peripheral nerve sheath tumors ).
Axillary (armpit) and inguinal (groin) freckling: Clusters of small freckles in these areas.
Lisch nodules (iris hamartomas): Benign growths on the iris of the eye, usually harmless and not affecting vision.
Optic pathway gliomas (OPGs): Tumors on the optic nerve, which can affect vision. More common in young children.
Skeletal abnormalities: Scoliosis (curvature of the spine), thinning of long bones (e.g., tibia), and bowing of legs.
Learning disabilities and ADHD: Common, often requiring specialized educational support.
Larger head circumference.
Increased risk of other conditions: High blood pressure, epilepsy, certain cancers.

Neurofibromatosis Type 2 (NF2-related schwannomatosis) Symptoms:

Typically manifest in late adolescence or early adulthood.

Bilateral vestibular schwannomas (acoustic neuromas): Benign tumors on the nerves leading from the inner ear to the brain, affecting both ears. This is the hallmark of NF2 and leads to:-
- Progressive hearing loss (often starting in the teens).
- Tinnitus (ringing in the ears).
- Balance problems and dizziness.
Other cranial nerve schwannomas: Tumors on other nerves in the head, potentially causing facial numbness, weakness, or paralysis, or swallowing difficulties.
Meningiomas: Benign tumors that grow on the membranes covering the brain and spinal cord.
Ependymomas: Tumors that develop inside the spinal cord.
Cataracts: Juvenile cataracts are common and can be an early symptom.
Chronic pain: The most common and often debilitating symptom, caused by tumors pressing on nerves and surrounding tissues. Pain can be severe and widespread.
Numbness, tingling, or weakness: In the affected areas.
Muscle wasting.

Advanced Physiotherapy for Neurofibromatosis

Goals of Physiotherapy

Pain management: Reduce pain caused by tumors compressing nerves or affecting musculoskeletal structures.
Maintain/Improve muscle strength and endurance: Counteract muscle weakness and atrophy due to nerve compression or disuse.
Improve range of motion (ROM) and flexibility: Address joint stiffness and soft tissue shortening.
Enhance balance and coordination: Especially critical for NF2 patients with vestibular schwannomas.
Improve gait and mobility: Address issues like foot drop, limping, or instability.
Maximize functional independence: Help individuals perform daily activities, school, or work.
Prevent complications: Such as scoliosis progression, contractures, or falls.
Provide assistive device recommendations: Orthotics, braces, walking aids, hearing aids.

Advanced Physiotherapy Techniques

Gait Training with Assistive Devices: For those with balance issues, weakness, or foot drop, training with crutches, walkers, or canes.
Vestibular Rehabilitation Therapy (VRT): Crucial for NF2 patients with dizziness, vertigo, and balance problems. Includes:
- Habituation exercises: To reduce dizziness caused by specific movements.
- Gaze stabilization exercises: To improve eye movements and vision stability.
- Balance training: Static and dynamic balance exercises on various surfaces.
Proprioceptive Neuromuscular Facilitation (PNF): Advanced stretching and strengthening techniques that facilitate nerve and muscle response.
Functional Electrical Stimulation (FES): For muscle weakness (e.g., foot drop) to help with walking and functional movements.

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