Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease is the most common inherited neurological disease. It is characterized by inherited neuropathies without metabolic disorders.Evolution of the different types of disease varies and depends on clinical severity. In general, Charcot-Marie-Tooth disease is slowly progressive muscle weakness secondary to disability and deformity. The disease does not shorten life expectancy.
Patients usually present with a family history of Charcot-Marie-Tooth disease. Progressive muscle weakness in distal muscles of limbs, especially the lower is the first sign. The patient initially accused difficulty walking due to weakness and shaking. Hair and ankle sprains are common. Cause profound muscle weakness of the foot deformity, pes Cavus. Weakness of the hand fingers cause poor control, the inability of writing, unable to finish the buttons and neindeminarea in handling small objects.
There is still no cure or slow down the natural disease process.Patients are only treated symptomatically. Surgery is indicated for severe deformities, scoliosis. It is determined by patient age.Surgical procedures include release of plantar fascia, tendons, osteotomy and joint stabilization. The loss of sensation in the limbs distal protection patients with this disease are succeptibili to ulcers and heartburn.
Pathogenesis and causes
Charcot-Marie-Tooth disease represents a heterogeneous group of genetically distinct disorders with similar clinical presentation.Type 1 is a disorder of a gene mutation mielinizarii peripheral myelinated peripheral proteins. This causes an abnormal myelin that is unstable and breaks spontaneously. Demyelinating process slow and slow nerve conduction velocities.Slowing driving motor nerves and sensory nerve causes weakness and numbness. Pain and temperature are not affected because they are driven by C-fibers nemielinizate. In response to demyelination, Schwann cells proliferate and form concentric zones remyelinization-bulb onions. Remyelinization repeated cycles in a thin layer around axons give the appearance of onion bulb.Type 2 disease is a primary neuronal disease and not a demyelinating. Type 2 peripheral neuropathy cause of death and axonal degeneration waleriana directly. Type 3 disease also known as Dejerine disease is characterized by infantile onset and severe demyelination with motor skills delay.
Signs and symptoms
Patients usually present with a family history of Charcot-Marie-Tooth disease, which varies according to heredity, and penetrating. Spontaneous mutations were also reported.Progressive muscle weakness in distal muscles of limbs, especially the lower is the first sign. Onset occurs in the second decade of life. The patient initially accused difficulty walking due to weakness and shaking. Hair and ankle sprains are common.Parents may report impleticirea or lack of athletic child. As weakness becomes more severe leg hair appears. STEP is also walking frequently. Cause profound muscle weakness of the foot deformity, pes Cavus. Symptoms associated with structural abnormalities include calluses, ulcers, cellulitis or limfangita.Weakness of the hand fingers cause poor control, the inability of writing, unable to finish the buttons and neindeminarea in handling small objects. Patients do not blame paresthesia, because they have never experienced the sensation member and not to recognize this. Musculoskeletal and neuropathic types of pain are present. Muscle cramps are frequent accusations. Some people blame impotence.
Physical Exam:Cause muscle weakness, characteristic "stork leg" or "the bottle of champagne"Soaselor-anomalies observed in long-term illness, At 25% of cases with pes Cavus foot-high archThoracic scoliosis, spinal deformities occurred in 50% of patientsDeep tendon reflexes are diminished or absentProprioception and vibratory sensation, are low-Patients may experience sensory ataxia, positive Romberg sign-Pain and temperature sensation are intact-Is present in 50% of essential tremor patientsSensory-neural deafness is described in 5% of cases-Large and palpable peripheral nerves are commonPhrenic-nerve damage is rare with diaphragmatic weakness-Vocal cord damage and deafness occur in rare form.
Pain nonneuropatica:Nonneuropatice patients have multiple pain syndromes. Pain may be the result of pressure or stretching of the various structures associated with the bones, tendons and articulatiilr and abnormal posture of knees, ankles, hips, spine. Patients accused painful calluses. Scoliosis is common and leads to back pain. Patients experiencing muscle cramps in legs and arms that gets worse with fatigue and improves by wearing ortoze.
Charcot-Marie-Tooth disease type 1 X-linked:In men, symptoms typically begins in childhood or adolescence.Shows asymmetric features. Women are often asymptomatic, but shows a delayed onset of symptoms. Rarely they present a more severe disease due to the X chromosome inactivation of the predominant form of more frequent deep atrophied muscles of the hand, paresthesia and sensory loss.
Dejerine-Sottas syndrome:It was initially described as a childhood-onset hypertrophic neuropathy, distal sensory loss with ataxia, pes Cavus and Argyll-Robertson pupils.
Hipomielinizanta congenital neuropathy:Patients with this disease shows neonatal hypotonia, areflexia, distal weakness, nerve conduction and slow speeds artrogripoza and contractures.
Charcot-Marie-Tooth disease type 2:Patients tend to present symptoms late in life. Shows a greater degree of distal muscle atrophy and weakness in legs from hands.Nerve hypertrophy is absent. The disease progresses slowly.