Titin Related Myopathy with Ophthalmoplegia. A Novel Phenotype. (2023)

FAQs

What is titin related myopathy? ›

Titin abnormalities can cause a wide spectrum of muscle disorders called “Titinopathy”. These disorders may be also called a “myopathy” or a “dystrophy” including limb-girdle muscular dystrophy (LGMD) and tibial muscular dystrophy.

The late-onset autosomal dominant tibial muscular dystrophy (TMD) is caused by mutations in the last exon (364), which cause a posttranslational pathological cleavage of a larger portion of the C-terminal titin protein.

Titin gene mutations as a cause of cardiomyopathies

Cardiomyopathies are diseases that cause primary abnormalities in the heart muscle [57]. The most common type is dilated cardiomyopathy (DCM) with a prevalence of up to ~1:250 [57,99]. DCM is characterized by left ventricular dilation and systolic dysfunction [57].

Mutations in titin were found to cause familial restrictive cardiomyopathy. the hereditary myopathy with early respiratory failure due to mutations in the TTN gene be nosologically classified as myofibrillar myopathy-titinopathy.

For dermatomyositis, polymyositis, and necrotizing myopathy, the progression of the disease is more complicated and harder to predict. More than 95 percent of those with DM, PM, and NM are still alive more than five years after diagnosis.

The most common symptoms of recessive titinopathy are muscle weakness and breathing difficulties. Some affected individuals also develop heart problems.

Toxic buildups of proteins are a key hallmark of most forms of dementia, including Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia. These buildups are formed when the proteins misfold and form large clumps that are thought to be toxic to brain cells.

Creutzfeldt-Jakob disease (CJD) is caused by an abnormal infectious protein in the brain called a prion. Proteins are molecules made up of amino acids that help the cells in our body function. They begin as a string of amino acids that then fold themselves into a 3-dimensional shape.

This condition is known as dilated cardiomyopathy, and it affects about 1 in 250 people worldwide. It was previously thought that the titin mutation would not affect people carrying the mutated gene, so long as it wasn't expressed.

Muscular dystrophies are not always fatal. While some types of muscular dystrophy can shorten a person's life expectancy, people with other forms of the disease live full, average-length lives.

Is a TTN gene mutation rare? ›

Mutations in the TTN gene are considered as the most frequent cause of inherited DCM and cover 10–30% of the cases.

Titin has long been recognized as a mechanical protein in muscle cells that has a main function as a molecular spring in the contractile units, the sarcomeres. Recent work suggests that the titin spring contributes to muscle contraction in a more active manner than previously thought.

End stage cardio-respiratory failure is the most common cause of death in DMD. Young unexpected deaths do still occur. Vigilance is needed for nutritional, respiratory and cardiac failure at any age.

Myopathy is derived from the Greek words “myo” for muscle, and “pathy” for suffering which means muscle disease. The most common signs and symptoms of myopathies include weakness, stiffness, cramps, and spasms.

The average lifespan for Duchenne muscular dystrophy is 18 to 25 years. With early treatment, it can reach 30 years. But recent technological advances have made it possible to improve treatment. As a result, people living with the disease live better and longer.

Mitochondrial myopathy is caused by a defect in the mitochondria, which are the energy-producing part of cells. These conditions have muscle weakness, but also a variety of other symptoms, as mitochondrial disorders typically affect other organ systems like your heart, brain and gastrointestinal tract.

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain.

Cramping, stiffness, and soreness can also occur. Some myopathies can affect muscles in the hands or feet, or facial and eye muscles. In some cases, the problem can affect the heart and breathing muscles.

Disease Overview

Duchenne muscular dystrophy (DMD) is a rare muscle disorder but it is one of the most frequent genetic conditions affecting approximately 1 in 3,500 male births worldwide. It is usually recognized between three and six years of age.

Congenital myopathy is a term for any genetic muscle disorder that is typically noticed at birth and includes weakness and lack of muscle tone. Some congenital myopathies may not show symptoms until infancy or childhood.

Is there a cure for myopathies? ›

No, there is not a cure for myopathy itself. However, it can be treated to improve symptoms. If myopathy is related to an illness, like a virus or electrolyte imbalance, the muscle symptoms will improve when the underlying condition resolves. Immunosuppressants can help relieve symptoms of certain types of myopathy.

No, drinking more water won't treat proteinuria. Drinking more water will make you pee more, so there may be less protein every time you pee, but it won't stop your kidneys from leaking protein.

A 2013 study from UC Santa Barbara implicated that cinnamon might be able to prevent the build up of tau protein tangles in the brains of people with Alzheimer's. Researchers extracted two chemicals from cinnamon — cinnamaldehyde and epicatechin — and used them to treat lab-created cells as part of the experiment.

Protein misfolding is believed to be the primary cause of Alzheimer's disease, Parkinson's disease, Huntington's disease, Creutzfeldt-Jakob disease, cystic fibrosis, Gaucher's disease and many other degenerative and neurodegenerative disorders.

These symptoms include: Drowsiness. Headache (usually in a certain part of the head) Nervous system changes that may start suddenly, including confusion, delirium, double vision, decreased vision, sensation changes, speech problems, weakness, or paralysis.

Protein deficiencies slow down development and lower cognitive function. A lack of proteins depletes the chemicals in the brain that control mood, appetite, and energy levels. Protein deficiencies have also been linked to depression, anxiety, ADHD, epilepsy, and a certain type of autism.

In fact, the G-T mutation is the single most common mutation in human DNA. It occurs about once in every 10,000 to 100,000 base pairs -- which doesn't sound like a lot, until you consider that the human genome contains 3 billion base pairs.

KAT6A syndrome is an extremely rare genetic neurodevelopmental disorder in which there is a variation (mutation) in the KAT6A gene.

What is the most fatal muscular dystrophy? ›

Yes, Duchenne muscular dystrophy is ultimately fatal. Most people with the condition die from lung or heart issues caused by it.

Tom Sulfaro has outlived all predictions for patients with Duchenne Muscular Dystrophy by decades and is believed to be the oldest survivor with the disease.

Duchenne MD (DMD)

DMD is the most common and severe form of MD among children, and it accounts for approximately half of MD cases. DMD occurs mostly in boys, usually between 3 and 5 years of age, and progresses rapidly.

Diagnostic testing of this gene is recommended to identify a potential genetic basis for a condition. This type of testing can inform prognosis and clinical care for a symptomatic patient or be used to screen unaffected patients (including family members) for increased genetic risk for the condition.

Titin is a giant vertebrate striated muscle protein with critical importance for myofibril elasticity and structural integrity. We show here that the complete sequence of the human titin gene contains 363 exons, which together code for 38 138 residues (4200 kDa).

Fabry disease is a rare genetic disorder that can affect many parts of the body and lead to many different types of symptom.

Titin /ˈtaɪtɪn/ (contraction for Titan protein) (also called connectin) is a protein that in humans is encoded by the TTN gene. Titin is a giant protein, greater than 1 µm in length, that functions as a molecular spring that is responsible for the passive elasticity of muscle.

Though still microscopically small, titin is gigantic compared to other proteins. Comprised of more than 30,000 amino acids, the supersize protein is made from super-repeated structures. The amino acid super-repeats of titin are like tick marks on a yardstick, measuring out uniform sections of the thick filament.

isoleucine is the chemical name for the protein of “titin” also known as “connectin.” The largest known protein that consists of 26, 926 amino acids is made up of 189, 819 letters and can take about three hours to pronounce.

The primary symptom of idiopathic inflammatory myopathy is muscle weakness, which develops gradually over a period of weeks to months or even years. Other symptoms include joint pain and general tiredness (fatigue).

How serious is myopathy? ›

The morbidity and mortality of myopathies is related to the etiology of the condition, severity of disease, and the presence of comorbid conditions. Severe weakness may lead to respiratory failure and death.

Kaplan–Meier analysis revealed that the 3-year, 5-year, and 10-year survival rates for SSc patients with myopathy were 97.7%, 95.1%, and 81.4% respectively, compared with those of patients without myopathy, which were 98.8%, 97.8%, and 94.1%, respectively, (P = .

A total of 69.8% (109/156 cases) of the patients died within 6 months after diagnosis.

The most common signs and symptoms of myopathies include weakness, stiffness, cramps, and spasms. Myopathies are a heterogeneous group of disorders primarily affecting the skeletal muscle structure, metabolism, or channel function. They usually present with muscle weakness interfering in daily life activities.

A myopathy is essentially a medical term used to describe a condition that affects the muscles. The result is often inflammation in the muscles, which make them weak. This causes a slew of issues, which is why the Social Security Administration (SSA) lists some myopathies in their Blue Book of disabilities.

Patients with dermatomyositis, polymyositis, or necrotizing myopathy are usually treated by rheumatologists. Those with dermatomyositis may also work with a dermatologist.

Clinically, muscular dystrophies are typically progressive, because the muscles' ability to regenerate is eventually lost, leading to progressive weakness, often leading to use of a wheelchair, and eventually death, usually related to respiratory weakness.

Cumulative survival from diagnosis has been estimated at 74.9% at 5 years and 62.5% at 10 years. Pulmonary involvement represented the main cause of death.

What is the best treatment for myopathy? ›

Physical therapy, supportive devices such as braces, and sometimes surgery may also be used as treatment tools. Treatment of metabolic, toxic and endocrine-related myopathy generally focuses on the underlying cause of the condition. Medication or surgery may be used to address the symptoms.

An ocular myopathy is a degenerative disorder of extra-ocular muscles with the primary site of the lesion in the striated eye muscle cell itself.

Myopathies are frequently not confined to the skeletal muscles but also involve other organs or tissues. One of the most frequently affected organ in addition to the skeletal muscle is the heart (cardiac involvement, CI).