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Doenças Genéticas (Neurologia) - Tratamento em Lisboa

GENETIC DISEASES - NEUROLOGY | Treatment in Lisbon

Specialised neurological assessment, counselling and multidisciplinary support in Lisbon

WHAT ARE NEUROLOGICAL GENETIC DISEASES?

Avaliação neurológica de doenças genéticas — NeuroPsyque Lisboa

When the genetic code moulds the nervous system

Neurological diseases of genetic origin result from alterations in DNA - mutations inherited from one or both parents, or generated spontaneously by mutation during development. These mutations compromise the structure or functioning of the central and peripheral nervous system. They are chronic and often progressive, This requires a close clinical approach throughout life. Heredity also implies that other family members may be carriers or at risk, making genetic counselling an essential part of care.

How they can manifest themselves

  • Movement Disorders
    Involuntary tremor, muscle rigidity, uncoordinated movements or spasms that progressively affect autonomy - as occurs in some hereditary forms of ataxia (motor incoordination) or dystonia (involuntary muscle contractions).
  • Early Onset Cognitive Decline
    Progressive loss of memory, attention or executive functions in young or middle-aged adults, earlier than expected for normal ageing. There is often an identifiable family pattern.
  • Hereditary Neuropathies
    Lesion of the peripheral nerves that causes weakness, numbness or pain, especially in the extremities of the limbs. One of the most representative groups are hereditary motor and sensory neuropathies (e.g. Charcot-Marie-Tooth disease).
  • Genetic Epilepsy
    Certain forms of epilepsy have a documented genetic basis. Identifying the specific mutation makes it possible to select the most effective antiepileptic and avoid drugs that could worsen the condition.

PATTERNS OF HEREDITY AND TRANSMISSION

Autosomal Dominant Transmission

It only takes one altered copy of the gene for the disease to manifest itself. Each child of a carrier has a 50% chance of inheriting the mutation. Some forms of spinocerebellar ataxia follow this pattern.

Dominant

Autosomal Recessive Transmission

Two mutated copies (one from each parent) are needed for the disease to manifest. Carriers of a single copy have no symptoms but can pass the mutation on to their children.

Recessive

X-linked

The mutation is found on the X chromosome, which means that men are typically more affected and women can be silent carriers. Certain forms of muscular dystrophy follow this pattern.

X-linked

New Mutations in Cell Reproduction

Genetic alterations that appear for the first time in an individual, with no identifiable family history. Although not inherited, these mutations can be passed on to subsequent generations.

Spontaneous
Mapeamento genético e neurológico — NeuroPsyque Lisboa

Knowing the pattern of transmission is essential for family planning and for identifying other family members at risk.

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THE IMPACT OF MONITORING SPECIALISED

Results centred on early diagnosis, genetic counselling and long-term quality of life

>50%
of families with a confirmed neurological genetic diagnosis receive counselling that directly alters family and reproductive planning decisions
3×
slower rate of functional progression when multidisciplinary monitoring (neurology, genetics, rehabilitation) is initiated early on
65%
reducing the emotional and psychological impact of the disease with structured psychoeducation and ongoing family support
+Life
the majority of patients with hereditary neuropathies (e.g. Charcot-Marie-Tooth) maintain normal life expectancy and functional autonomy when followed up from the time of diagnosis

* Genetic counselling and molecular diagnosis allow for precise therapeutic strategies, reducing the functional and emotional impact of the disease in the long term.

Sources: clinical data, NIH/NINDS - Charcot-Marie-Tooth Disease Fact Sheet (life expectancy and functional autonomy); Cleveland Clinic - CMT Disease Overview (multidisciplinary care outcomes); AAN (American Academy of Neurology) - Expanding role of genetic counsellors in neurology; NIH/PubMed - Genetic counselling impact on family planning decisions in neurological genetic disease.

TECHNOLOGY AND THE THERAPEUTIC ENVIRONMENT

Avaliação neurológica especializada em doenças genéticas
Estimulação Magnética Transcraniana (EMT) no apoio a doenças neurológicas genéticas
tDCS e neuromodulação no apoio à reabilitação neurológica
Acompanhamento familiar e psicoeducação em doenças genéticas
Neuromodulação complementar no tratamento de doenças neurológicas crónicas
Mapeamento Cerebral (qEEG) e diagnóstico neurológico
Clínica Lisboa
Ondas Cerebrais
Fisiologia
Salas de Reabilitação Cognitiva e Neuropsicologia
Espaço Clínico NeuroPsyque — Ambiente Seguro e Especializado

A CHRONIC ILLNESS REQUIRES CONSTANT MONITORING

The diagnosis of a genetic neurological disease isn't the end - it's the beginning of a long-term process. Unlike other curable conditions, genetic diseases accompany the patient for life. This means that the goal of medicine is not to "cure" in the traditional sense, but to preserving quality of life, delaying progression, adapting therapeutic strategies to the evolution of the disease and supporting the family at every stage of this journey. The focus should be on minimising the impact of symptoms on day-to-day life and maximising longevity.

💡 The chronicity of the disease makes early diagnosis especially valuable: the sooner the mutation is identified, the more time there is to implement neurological protection strategies, adapt lifestyle and prepare the patient and family for the future.

At NeuroPsyque, our approach to genetic neurological diseases is integrated and continuous. We combine specialised neurological consultation, periodic neuropsychological assessment, cognitive and motor rehabilitation, and non-invasive neuromodulation protocols - when indicated - to help preserve neurological functions over time. We also believe in the central role of the family: the psychoeducation of carers is just as important as the treatment of the patient themselves.

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Frequently Asked Questions

FAQ's on Neurological Genetic Diseases

If I have a genetic neurological disease, will my children have the same disease?
Not necessarily - it depends on the specific heredity pattern of your condition. In autosomal dominant diseases, each child has a 50% chance of inheriting the mutation. In recessive diseases, the risk can be much lower. Specialised genetic counselling is the essential step to understanding exactly what the risk is for your family and what options are available.
What is the difference between a genetic disease and a hereditary disease?
All hereditary diseases are genetic, but not all genetic diseases are hereditary. It is possible for a spontaneous mutation to appear for the first time in a person, without any of their parents having it - and this can then be passed on to their own children. This is an important distinction that the specialist will clarify during the consultation and which has direct implications for family screening.
Is there treatment for neurological diseases with genetic causes?
Although there is no talk of a "cure", there is effective treatment. The response also varies greatly depending on the specific disease. For some conditions there are therapies that modify progression or control symptoms very effectively. For others, the focus is on neurological protection and maintaining quality of life. Research in this area is advancing rapidly, and specialised monitoring ensures that the patient benefits from all the therapeutic options available at any given time.
What is disease progression and how can it be slowed down?
Many genetic neurological diseases are progressive in nature: symptoms tend to worsen slowly over time. Slowing down this progression is possible through interventions such as Cognitive Rehabilitation and Motor Rehabilitation (physical) regular, non-invasive neuromodulation (Transcranial Magnetic Stimulation e Trancranial Direct Current Stimulation), the control of cardiovascular risk factors, and cognitive stimulation. The brain's neuroplasticity - its ability to reorganise itself - is a powerful ally that can be put to better use with the right approach.
How often should I go for follow-up appointments?
The frequency depends on the disease, its stage and the expected rate of progression (prognosis). In general terms, the neurological monitoring regularly - usually every 6 to 12 months - makes it possible to detect subtle changes early on, adjust the therapeutic plan and anticipate rehabilitation needs before deficits become significant.
How can the family help on a daily basis without overprotecting the patient?
It's a delicate balance. The family must create a safe and adapted environment, without eliminating the stimuli that the brain needs to remain active. Encouraging autonomy in the tasks the patient can still perform, maintaining an active social life and taking part in psychoeducation sessions are fundamental contributions. Contact us for specialised family support.