Distrofias Musculares: causas e tratamento em Lisboa

MUSCLE DISTROPHIES - Treatment in Lisbon

Specialised neurological assessment and monitoring of Muscular Dystrophies in Lisbon

WHAT ARE MUSCULAR DYSTROPHIES?

Avaliação neurológica das Distrofias Musculares — NeuroPsyque Lisboa

A genetic fault in the structure of the muscle

Muscular Dystrophies are a group of genetic and hereditary diseases characterised by progressive weakness and loss of muscle mass. They result from mutations that interfere with the production of vital proteins (such as dystrophin) needed to build and maintain healthy muscles. Although many forms manifest in childhood, some only appear in adulthood, requiring strict and continuous neurological monitoring.

Most common manifestations

Progressive muscle weakness
Increasing difficulty in running, jumping, climbing stairs, lifting objects or holding their arms up.
Changes in gait and posture
Frequent falls, altered gait (anserine gait) or difficulty getting up from the floor (Gowers sign).
Contractures and stiffness
Shortening of the muscles or tendons around the joints, severely limiting mobility.
Systemic complications
In advanced stages, the weakness can affect the heart muscle (cardiomyopathy) and the respiratory muscles.

MAIN TYPES OF MUSCULAR DYSTROPHY

Duchenne Muscular Dystrophy

The most common form in childhood (almost exclusively affecting boys). Rapid progression with proximal weakness (muscles responsible for large movements) and hypertrophy of the twins.

Childhood / Duchenne

Becker Muscular Dystrophy

Similar to Duchenne, but with a slower, less severe course and onset usually in adolescence or early adulthood.

Becker

Myotonic Dystrophy (Steinert's Disease)

It is characterised by "myotonia" (inability to relax the muscle after contraction), with involvement of the heart, eyes and endocrine system.

Adults / Myotonic

Facio-scapulo-humeral dystrophy (FSHD)

It mainly affects the muscles of the face (difficulty smiling, whistling or closing the eyes), progressing to the shoulders and arms.

FSHD

Estudo da estrutura neuromuscular e anomalias genéticas

Accurate diagnosis through genetic testing, clinical assessment and electroneuromyography is the first step towards a safe and effective care plan.

ASSESSMENT AND CLINICAL ENVIRONMENT

Espaço Bem-Estar e Recuperação Funcional

THE IMPORTANCE OF DIAGNOSIS AND ONGOING CARE

Muscular dystrophies are complex diseases that require a careful and specialised clinical approach over time. Accurate diagnosis - through clinical, neurophysiological and genetic assessment - not only makes it possible to estimate the degree of progression of the disease, but also opens doors to the new therapeutic options that have emerged on the medical scene.

💡 Early diagnosis prevents wrong interventions and allows you to immediately start a plan to preserve muscle function, avoiding secondary joint damage.

At Clínica NeuroPsyque, we accompany the patient at every stage. Our primary objective is to delay the progression of motor symptoms, manage pain and fatigue, and implement preventive measures that guarantee the highest possible quality of life, mobility and independence, integrating an up-to-date and humane neurological vision.

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Frequently Asked Questions

FAQ's about Muscular Dystrophies

Can muscular dystrophies be cured?

There is currently no definitive cure for most dystrophies, but the treatment landscape has evolved immensely. Specialised physiotherapy, symptom monitoring and, more recently, the emergence of genetic therapies targeting specific mutations (as in Duchenne), have radically changed patients' prognosis and quality of life.

Is it always a hereditary disease?

In the vast majority of cases, yes, the genetic mutation is passed down from parents to children and can skip generations. However, spontaneous (new) genetic mutations can occur in an embryo, causing dystrophy to appear in a family with no previous history of the disease.

What is the difference between Muscular Dystrophy and Muscular Atrophy?

Muscular dystrophy is a primary genetic defect in the structure of the muscle protein itself, leading to its slow destruction. Muscular atrophy is the loss of volume and mass in a normal muscle that occurs due to lack of use, nerve damage or prolonged illness, without there being a genetic defect in the muscle cell.

How is the definitive diagnosis made?

The initial assessment is based on clinical history, observation of weakness and neurological examination. This is followed by blood tests to assess muscle enzymes (Creatine kinase - CK) and Electroneuromyography (ENMG). Absolute confirmation and typing is done through molecular genetic tests and/or muscle biopsy.

Do these diseases only affect children?

No. While some better-known forms, such as Duchenne Dystrophy, manifest themselves clearly in childhood, other forms such as Steinert Myotonic Dystrophy or Facio-scapulo-humeral Dystrophy can start or become symptomatic only in adulthood, often with subtle weakness.

What is the role of physiotherapy?

A specialised physiotherapy is the fundamental pillar of daily care. However, exercise must be carefully designed and supervised by professionals: the aim is gentle stretching to prevent contractures and low-impact strengthening. Strenuous exercise is contraindicated as it can aggravate muscle destruction (exertion-induced fatigue).

Do I need a medical referral to book an appointment at NeuroPsyque?

No, prior referral is not necessary. If you have any suspicions of unexplained muscle weakness or would like to be monitored for ongoing management of an already diagnosed Dystrophy, you can book your appointment at neurological assessment with us. Contact us.