This is the umbrella term for diseases that involve motor neurons and covers more than one disease. Diseases that fall into this group are named according to the type and involved site of motor neurons or whether or not they are congenital or acquired [e.g.: multifocal motor neuropathy (MMN), spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS) etc.].
 
Are Motor Neuron Diseases caused by Genetic Factors?
They might be acquired or congenital (or in other words, hereditary or genetic).
 
What are the Symptoms of Motor Neuron Diseases?
Since they involve only motor neurons, our movements are affected. They do not lead to any sensory deficit or complaint.
 
How are Motor Neuron Diseases Diagnosed and Treated?
Although MMN is treatable, there is no known medication for others.
Sometimes, motor neuron diseases may be caused by other diseases. In this case, it is necessary to treat the underlying disease. We need to make numerous examinations (blood tests, imaging, lumbar puncture etc.) in our patients to investigate the etiology.

It is also called motor neuron disease (MND). If an analogy is made, the disease resembles an exaggerated ‘aging’ process which is only in motor neurons, but not all physical features of the person.
 
Is Amyotrophic Lateral Sclerosis (ALS) a Genetic Disease?
Although it is often classified as acquired, the hereditary types are increasingly better understood.
 
What are the Symptoms of Amyotrophic Lateral Sclerosis (ALS)?
Movement-related complaints usually develop in one hand or foot and then progress and spread to the whole body. Speech, swallowing and breathing may also be affected in some cases (“bulbar” involvement). Risk of progression or its rate may vary from individual to individual. Since it cannot be predicted in advance, ALS patients should be closely followed particularly for respiratory signs and symptoms.
 
How is Amyotrophic Lateral Sclerosis (ALS) Diagnosed and Treated?
Since there is no cure or no efficient medication for ALS, it is not possible to eliminate existing signs and symptoms and return to normal, like our not being able to turn the aging clock back. On the other hand, it is indeed possible, albeit partially, to modify the course of the disease as in influencing the “aging” process (good aging in well-cared people vs. faster and poor aging in others who suffer from poor living conditions). The globally known Rilutek is accepted as the only disease modifying medication. Results on the similar Edaravone are controversial.

ALS is among the diseases on which every treatment option is investigated in treatment trials. A properly planned follow-up is very crucial until those treatments are available for us. Exercise also requires attention; intense exercise programs not only cause tiredness, but they also accelerate progression of the disease. On the other hand, sedentary life leads to inactivity weakness. Non-strenuous and alternating aerobic training, including jogging or swimming, are the types of exercise that should be recommended for our patients.

It is among the diseases that affects the cell body of motor neurons. Rate of asymptomatic carriers is very high among the general population, which is further increased by consanguineous marriages.

In SMA, only the movement capabilities are affected,  the sensorial system is spared. Recent studies attract attention to the importance of nutrition, as the disease is associated with certain metabolic disorders.
 
Is Spinal Muscular Atrophy (SMA) a Genetic Disease?
It is a hereditary disease.
 
What are the Types and Symptoms of Spinal Muscular Atrophy (SMA)?
There are 4 types of the disease depending on age of onset and severity of the disease:
 
Type 1 (SMA 1) develops in early infancy and it is the most severe type regarding the limitation of movements. Babies gradually lose the achieved motor milestones and finally, respiratory muscles are compromised. Thanks to advanced technology today, as these babies survive longer than expected with  better respiratory and nutritional support. It is important to diagnose the condition early on, as it is reported that certain treatments may help if they are started in first several days or weeks of the life.

Type 2 (SMA 2) develops between ages of 6 months and 1.5 years or in other words, before the start walking on our own. Muscle weakness progresses and scoliosis (abnormal curvature of the spine) develops in some cases. Some patients need respiratory support. Patients with SMA 2 never regain the ability to walk.
Type 3 (SMA) is diagnosed in childhood after the age of 1.5 years – .e. after the child achieves walking on their own– and in adolescence. It is difficult to walk and move arms. The disease progresses very slowly over decades. Therefore, these patients usually continue education and sustain an occupation/family life. With this very slow progression, it is important to notice that it takes years of follow-up to understand the effect of any treatment on the course of the disease.

Type 4 (SMA 4) is the mildest form. It develops in adulthood and progresses very slowly. These patients may have an almost normal life.
 
 
What are Treatment Methods of Spinal Muscular Atrophy (SMA)?
Excluding very young patients, it is appropriate to wait for a while to see the results of various treatment trials. Since motor neurons are affected, exercise may be tiring in patients with SMA and should be performed with caution. As is the case with many muscle and nerve diseases, mental or emotional systems are not affected. Furthermore, many SMA patients are very creative. It is important that these features be better evaluated by the society to give motivation to and employ the patients.

It is an inflammatory (non-infectious inflammation) disease of peripheral nerves.
 
Is Guillain-Barré Syndrome (GBS) a Genetic Disease?
No, it is an acquired disease or in other words, a condition that develops later in life without any genetic cause.
 
What are the Symptoms of Guillain-Barré Syndrome (GBS)?
It leads to weakness and sensory impairment in arms and legs. Some patients may develop facial, swallowing and respiratory muscle weaknesses. When swallowing and respiratory muscles are affected, the patient may need to be monitored at an intensive care unit and should be admitted to a hospital. The disease shows progression, plateau and recovery periods. Patients usually seek medical help for complaints of difficulty in walking, which gradually progresses in one or several days, and with other associating symptoms.
 
How is Guillain-Barré Syndrome (GBS) Diagnosed and Treated?
Diagnosis is based on EMG, lumbar puncture and certain blood tests along with physical examination.
Most of the patients benefit from a special serum (IVIg) therapy. Moreover, physiotherapy substantially helps the recovery.

It is a group of inflammatory/autoimmune diseases (non-infectious inflammation; related to self-immune system) of peripheral nerves, a title embracing different entities according to the symptoms.
 
Is Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) a Genetic Disease?
No, it is an acquired disease or in other words, a condition that develops later in life without any genetic cause.
 
What are symptoms of Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)?
Symptoms of the disease usually involve both motor and sensory systems in various forms. Therefore, movements are affected along with sensory impairment. The time elapsed for progression of symptoms helps differentiating the disease from GBS. This is important, because GBS affects the same nerves once in a lifetime (it may rarely relapse), while CIDP persists lifelong after its onset and should be regularly followed up.
 
How is Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Diagnosed and Treated??
Since the disease requires lifelong follow-up, certain medications suppress inflammation of peripheral nerves and thus, the individual resumes a normal life. However, it is necessary to hinder the exacerbation of the inflammation. Therefore, it is vitally important for patients to maintain medical treatment as needed and regular neurology follow-up visits throughout their lives. Physiotherapy exercises are crucial to contribute to recovery of already existing symptoms.

It is an umbrella term for a group of peripheral nerve diseases. It is named after the first description of Charcot Marie and Tooth. It is characterized by various gene mutations and various heredity patterns and it is classified accordingly.
 
Is Hereditary Motor Sensory Polyneuropathy (HMSN) a Genetic Disease?
It is a genetic or in other words hereditary disease.
 
What are the Symptoms of Hereditary Motor Sensory Polyneuropathy (HMSN)?
Weakness and sensory deficits exist in hands and feet; complaints usually develop in childhood and adolescence, but also rarely in adulthood. Walking and fine use of hands due to weakness and sensory deficit are difficult. Sometimes, patients may complain from mild imbalance. Since these symptoms are congenital (i.e. they persist in a mild form for a long time), ‘pes cavus’ and ‘hammer toe’ deformities develop. Severity of symptoms vary. Some family members may have no complaint, but ‘pes cavus’ and ‘hammer toe’ can be detected when they are examined. Patients are therefore asked if any of the family members have similar feet shape and the answer may help the diagnosis. Sometimes, symptoms are associated with scoliosis (abnormal curvature of spine) or other deformities. The disease progresses extremely slowly.
 
How is Hereditary Motor Sensory Polyneuropathy (HMSN) Diagnosed and Treated??
Diagnosis is made by genetic analysis.
There is no cure or medication for HMSN. Treatment trials are conducted internationally. Strengthening and balance exercises are crucial for these patients.
 
Is surgery required for Treatment of Hereditary Motor Sensory Polyneuropathy (HMSN)?
Foot or scoliosis surgeries may boost quality of life in select cases.

It is a disease of peripheral nerves. Besides peripheral nerves, accumulation of amyloid may lead to impairment of myocardium, kidneys, liver and other tissues. The onset is in adulthood. The most distinctive feature of the disease is the involvement of sensory and autonomic nerves.
 
Is Familial Amyloid Polyneuropathy (FAP) a Genetic Disease?
It is a genetic or in other words hereditary disease.
 
What are the Symptoms of Familial Amyloid Polyneuropathy (FAP)?
Since the disease involves sensory nerves, sensory deficit develops; orthostatic hypotension (dizziness and low blood pressure upon rising up), sweat disorders and sexual dysfunction are caused by involvement of autonomic nerves. Orthostatic hypotension can be managed with compression socks and long-term use of certain medications. Association of these generalized signs with isolated involvement of a nerve, such as ‘carpal tunnel syndrome’, may strongly suggest this diagnosis and warrants investigation. Cardiac involvement may lead to a progressive heart failure. For all above-mentioned reasons, these patients should be followed closely and by more than one discipline.
 
How is Familial Amyloid Polyneuropathy (FAP) Diagnosed and Treated??
Early diagnosis is very critical for this disease. It is among very rare genetic diseases with a known treatment. There is more than one medication that can be used for treatment. Moreover, since early diagnosis plays a significant role in efficiency of treatment, genetic analysis should cover family members of the index patient in order to identify and follow up the individuals, who may develop the disease.

It is a disease of peripheral nerves. It may also affect heart, kidneys, blood vessels of brain, skin, eyes and other tissues.
 
Is Fabry Disease a Genetic Condition?
It is a genetic or in other words hereditary disease.
 
What are the Symptoms of Fabry Disease?
It usually develops in childhood and the most typical feature is the severe extremity pain due to the involvement of nerve ends. The symptoms may be associated with a specific type of lesion, called ‘angiokeratoma’. Studies demonstrate that young patients with stroke or myocardial infarction or even kidney failure, who never had other symptoms, happen to have Fabry disease upon investigations. The symptoms may be detected not only in patients, but also in carriers, who are not expected to have symptoms of the disease. Irrespective of the medical department making the diagnosis, these patients should be followed by all the relevant disciplines.
 
How is Fabry Disease Diagnosed and Treated??
Early diagnosis is very crucial in this disease, because it is among rare hereditary diseases with a known treatment. There is a medical treatment that should be maintained lifelong. Since early diagnosis plays a significant role in efficiency of treatment, genetic analysis should cover family members of the patient in order to identify and follow up the individuals, who may develop the disease.

They are to forms of muscle disease. An abnormal reaction of the individual’s immune system to muscles and related tissues (autoimmune). In other words, it is a type of inflammation (non-infectious) that plays a role in both diseases.
 
Is Polymyositis/Dermatomyositis a Genetic Disease?
No, it is an acquired condition or in other words, a condition that develops later in life without any genetic cause.
 
What are the Symptoms of Polymyositis/Dermatomyositis?
The major symptom is weakness of muscles, but difficulty swallowing may also develop in some cases.
Patients present with complaints of gradual decline in ability to sit and stand up, ascend stairs, reach out to shelves and swallow for several weeks or months. An additional symptom of dermatomyositis is skin rashes.
 
How is Polymyositis/Dermatomyositis Diagnosed and Treated??
Diagnosis is based on EMG, blood creatine kinase test and muscle biopsy.
The response to long-term suppression of the immune system with medications is usually good. Moreover, physiotherapy helps the recovery substantially.

The disease begins at the motor nerve-muscle junction (neuromuscular junction). Immune system of the patient attacks acetyl choline receptors and related proteins on muscles. The disease is characterized by remission and exacerbation periods. Certain drugs, tooth extraction, surgeries, infections and intense stress may cause exacerbation.
 
Is Myasthenia Gravis (MG) a Genetic Disease?
No, it is an acquired disease or in other words, a condition that develops later in life without any genetic cause.
 
What are the Symptoms of Myasthenia Gravis (MG)?
The most significant symptom is severe tiredness and fatigue of the affected muscle in response to activities. Accordingly, eyelids droop and double vision develops following a certain interval after waking up or after reading book, working on computer or watching TV; it becomes difficult to chew and swallow in intermediate or late phase of eating. Speech becomes impaired in a long conversation and arms and legs get tired during movement. As a matter of course, symptoms get worse throughout the day and resting alleviates them. Sometimes, fatigue also involves respiratory muscles causing respiratory distress, which is called myasthenic crisis. In this case, patients should be monitored in an intensive care unit.
 
How is Myasthenia Gravis (MG) Diagnosed and Treated?
Diagnosis is based on EMG, single-fiber EMG and antibody tests. Chest CT must be performed to search for thymoma.
Medications that suppress or affect the immune system (corticosteroid agents, IVIG etc.) are used for treatment along with drugs that alleviate symptoms (pyridostigmine/Mestinon). Patients may restore a normal life very soon with this treatment, but it is necessary to maintain the immunosuppressive treatment for a long time. Infection, certain drugs and surgeries may aggravate the symptoms.
 
Is Surgery required for Treatment of Myasthenia Gravis (MG)?
When there is a tumor in thymus, surgery is required to remove the tumor. However, removal of thymus is usually beneficial in selected young patients, even if there is no tumor.

It is the most common muscle disease of men in all populations. Clinical signs may develop rarely in women, who are carriers of the disease.

Patient’s body cannot produce dystrophin – a protein that strengthens muscle membrane – in DMD. It is synthesized, albeit in short form, in BMD. Weakness of muscles is caused by this condition.
 
Is Duchenne/Becker Muscular Dystrophy (DMD/BMD) a Genetic Disease?
It is a genetic or in other words hereditary disease.
 
What are the Symptoms of Duchenne/Becker Muscular Dystrophy (DMD/BMD)?
The child starts walking on their own at expected age in DMD, but frequent falls, need for leaning somewhere to stand up after falling, reluctance to ascend stairs and seeking to be carried by the parents very often (usually deemed as spoiled child) develop as symptıms. The onset is somewhat late or even too late in BMD.
 
How is Duchenne/Becker Muscular Dystrophy (DMD/BMD) Diagnosed and Treated?
Definitive diagnosis is made by genetic analysis of the dystrophin gene. Serum CK level and muscle biopsy findings are supportive investigations that lead to genetic analysis.

DMD/BMD may sometimes be identified incidentally in childhood without any complaint when liver function tests are found elevated.  Walking and other movements are gradually affected in subsequent ages.
A treatment is available for a very small percentage of patients who have a specific type of mutation. Treatment trials continue for the majority of patients. Exercise, swimming and training are activities that should strictly be maintained. The disease requires regular cardiologic follow-up.

It is a type of muscle disease. It may develop in both genders.
The underlying causes are different genetic defects producing different proteins. As a consequence, that specific protein is synthesized incorrectly or cannot be produced in muscle tissue. It is classified according to the type of protein and inheritance pattern. Around 50 subtypes are identified. Well known ones are dysferlinopathy, calpainopathy and sarcoglycanopathy.
 
Is Limb Girdle Muscular Dystrophy (LGMD) a Genetic Disease?
It is a genetic or in other words hereditary disease.
 
What are the Symptoms of Limb Girdle Muscular Dystrophy (LGMD)?
Onset of symptoms is usually in childhood or adolescence, and rarely in adulthood. The main symptom is weakness of proximal muscles in arms and legs. Therefore, patients face difficulty in jumping, running, ascending stairs and rising up from chair. The disease progresses very slowly over years or even decades. The same disease may vary in terms of severity even among members of the same family. In other words, the course is very heterogeneous.
 
How is Limb Girdle Muscular Dystrophy (LGMD) Diagnosed and Treated?
Showing the gene defect in genetic testing is the main requirement for a definitive diagnosis. If genetic testing is not available, CK level, EMG and primarily muscle biopsy may help classify the disease as LGMD.

Although there is no therapeutic medication available, treatment trials are ongoing. Before such treatments are introduced to clinical use, it is important to keep the muscles in good condition by exercise programs while maintaining social, academic and professional life. Since some types of the disease involve myocardium (heart muscle), it is critical to identify the type of LGMD and start cardiologic monitoring.

It is a type of muscle disease that may develop in both genders. Although usual onset is around adolescence, it may develop in late adulthood or even in first years of the life (in rare cases). It is manifested by a specific distribution of muscle weakness and atrophy. Asymmetric involvement is common. Symptoms may started one side of the body or they may be bilateral.
 
Is Fascio-Scapulo-Humeral Dystrophy (FSHD) a Genetic Disease?
It is a genetic or in other words hereditary disease.
 
What are Symptoms the of Fascio-Scapulo-Humeral Dystrophy (FSHD)?
The disease involves facial muscles at the earliest stage. The individual cannot appreciate the change for a long time based on the assumption that it is their natural look. Eyes look large and lips look protruded, as muscles around the eyes and mouth are atrophic. This condition, in fact, enhances facial appearances. When asked, some patients recall sleeping with open or semi-open eyes. Major complaints are recognized when the individual cannot raise one or both arms. Reaching out to shelves becomes difficult. Scapula alata (winging scapula) develops and is more prominent at the side of the body that the patient cannot raise their arms. Although the disease progresses very slowly, difficulty in walking may develop in subsequent years. Involvement of upper and lower extremity muscles may cause difficulty in walking. The gait pattern characterized by moving the thigh outward is secondary to weakness and atrophy of spinal and abdominal muscles. Therefore, exercise that strengthens the trunk should be started immediately after the diagnosis.
 
How is Fascio-Scapulo-Humeral Dystrophy (FSHD) Diagnosed and Treated?
One should always remember that the disease follows a unique course in each individual. Mild facial changes develop in some individuals and such changes may be so mild that even the individual may not recognize them. Therefore, patients with FSHD are often asked ‘Who do you look like in your family?’ Involvement of myocardium and respiratory muscles is rare.

Although there is no known therapeutic medication for the disease, it is among very intensively investigated conditions. Exercise is the major tool before a therapeutic option emerges.
 
Is surgery required for treatment of Fascio-Scapulo-Humeral Dystrophy (FSHD)?
For select patients, ‘Scapulothoracic Arthrodesis (STA)’ can be performed to attach the scapula to the chest wall in order to enable patients to raise their arms and eliminate the winging scapula. This does not mean that the disease is cured; it is for increasing the quality of life. Our surgical team is among the most experienced groups in the world in this regards.

It is a type of muscle disease. Other systems are also often affected, such as endocrine system, myocardium, brain tissue, eyes etc. Both genders can develop the disease. Although the symptoms usually have onset in adolescence, it may also be detected in later stages of life. A very specific and severe type of DM1 is seen in infancy. These babies are very hypotonic. They are usually named as ‘floppy infant’ and get sick quite often or sometimes, they may even end up dying. If diagnosis of this disease has not been made in any other family member, final diagnosis in such babies should be followed by diagnostic tests and examinations in parents in order to verify the diagnosis.
 
Is Myotonic Dystrophy Type 1 (DM1) a Genetic Disease?
It is a genetic or in other words hereditary disease. Severity of the disease may increase and symptoms may develop at earlier ages in every next generation.
 
What are the Symptoms of Myotonic Dystrophy Type 1 (DM1)?
Muscle weakness is manifested in the form of gait difficulty and weakness of facial and neck muscles as well as generalized muscle weakness in advanced stages. Since the disease progresses slowly, some symptoms may be unrecognized: For example, palpitation or rhythm disorders may be recognized very late. Therefore, patients should be regularly followed by a cardiologist and, in case of any surgery they must inform the surgical team of the diagnosis of the disease before any surgical procedure (as anesthetic agents aggravate the rhythmic disorder).
The disease may lead to endocrine disorders, diabetes, infertility and thyroid diseases. Lens is the most commonly involved part of the eye and cataract may develop at an early age. Family history of cataract surgery at an early age or death in younger ages (unrecognized) due to heart diseases is a very important clue for doctors regarding the diagnosis. Daytime sleepiness is also common in these patients. The underlying cause is sleep apnea that develops in most of the patients. Therefore, sleep tests should be done and patients should be followed up for respiratory findings.
 
How is Myotonic Dystrophy Type 1 (DM1) Diagnosed and Treated?
Genetic test allows definitive diagnoses in patients with suspected clinical clues.
There is no known medication for treatment of the disease. Treatment trials are ongoing. Exercise is the major tool before a therapeutic option emerges. In any case, these patients should be regularly followed for cardiac health, even if complaints of weakness are very mild. 

It is a type of muscle disease. More than one gene mutation causes this type of muscle disease. Accordingly, certain types develop only in men, while others affect both genders.
 
Is Emery-Dreifuss Muscular Dystrophy (EDMD) a Genetic Disease?
It is a genetic or in other words hereditary disease.
 
What are the Symptoms of Emery-Dreifuss Muscular Dystrophy (EDMD)?
Symptoms of the disease start in childhood or adolescence. Shortening of tendons attaching the muscles to bones, resulting in limitation in range-of-motion of joints, are observed rather than muscle weakness. Movements are restricted due to toe-walking, poor extension of wrists and difficulty in bending head and trunk forward. However, the most significant effect of the disease is involvement of the cardiac muscle. Certain signs, such as rhythm disorders and intermittent asystole (cessation of mechanical activity of the heart), develop at young ages.
 
How is Emery-Dreifuss Muscular Dystrophy (EDMD)Diagnosed and Treated?
Definitive diagnosis depends on the genetic test results. Heart muscle should be evaluated as soon as the diagnosis is suspected.

Lifespan of patients can be normalized with pacemaker implantation. Therefore, early identification, diagnosis and close cardiologic monitoring are very crucial and vital.

There is no known medication for treatment of the disease. Treatment trials are ongoing. Exercise is the major tool before a therapeutic option emerges. However, the most important aspects are cardiologic follow-up and ability of patients to access cardiac treatment and procedures without any delay, whenever required.

This is large group of muscle diseases caused by mutations in various genes. The onset is in infancy and affects both genders. Some diseases of this group involve only muscles, while others may affect other tissues, such as eyes and brain.
 
Is Congenital Muscular Dystrophy (CMD) a Genetic Disease?
It is a genetic or in other words hereditary disease.
 
What are the Symptoms of Congenital Muscular Dystrophy (CMD)?
Symptoms of ‘hypotonic baby’ or ‘floppy infant’ develop immediately after the birth. Muscles are weak and motor milestones such as holding head up or sitting unassisted are delayed in the first year of life. Joint limitations are present in some cases. Scoliosis develops after the babies start sitting independently. Although some patients may gain walking ability, even late and in a difficult way, others never achieve it. Mental retardation may occur if the brain is involved (excluding some such as merosinopathy).
 
How is Congenital Muscular Dystrophy (CMD) Diagnosed and Treated?
To show the appropriate gene defect by genetic analysis is the prerequisite for definitive diagnosis.
There is no known medication for treatment of the disease. Treatment studies are ongoing. Physiotherapy may help patients gain developmental motor skills.

It is a type of muscle disease.
 
Is Oculopharyngeal Muscular Dystrophy (OPMD) a Genetic Disease?
It is a genetic or in other words hereditary disease.
 
What are the Symptoms of Oculopharyngeal Muscular Dystrophy (OPMD)?
This muscle disease shows symptoms during adulthood or older age (usually after 45). It causes drooping of eyelids, difficulty swallowing in some cases and sometimes mild gait difficulty. It does not involve vital tissues, such as heart and brain.
 
How is Oculopharyngeal Muscular Dystrophy (OPMD) Diagnosed and Treated?
Genetic testing after EMG allows definitive diagnosis.
There is no known medication for treatment of the disease. Treatment studies are ongoing. In case of definitive diagnosis, ptosis surgery can help in selected patients. Swallowing physiotherapy is useful for swallowing difficulty.

This group of diseases is caused by various gene mutations and may be named accordingly (‘Central core’, ‘Multi-mini core’, ‘Nemaline’, ‘Myofibrillar’ etc.). Although most of them develop in infancy, others may emerge at advanced ages.
 
Are Congenital Myopathies a Genetic Disease?
It is a group of genetic or in other words hereditary diseases.
 
What are the Symptoms of Congenital Myopathies?
In case of infantile onset, signs and symptoms of ‘hypotonic baby’ are observed. The baby’s face becomes challenged in gaining developmental motor skills, such as holding head up, sitting and walking, but they eventually catch up with these functions. Accordingly, development is better while growing up from infancy to childhood. Gait difficulty may develop again, although very slowly, in some patients after 10 to 15 years of age. Some of these diseases may involve myocardium and respiratory muscles. High-arched palate, misalignment of teeth, jaw deformities and scoliosis may be observed in some patients. In this case, it may be necessary to collaborate with dentists.
 
How are Congenital Myopathies Diagnosed and Treated?
To identify the specific gene defect, genetic analysis is required for definitive diagnosis.
There is no known medication for treatment of these diseases. Treatment trials are ongoing. Physiotherapy may help patients gain and maintain developmental motor skills. Based on final diagnosis, certain patients may require close cardiac and respiratory follow-up, sometimes surgery for deformities.

In this group of muscle diseases, numerous gene mutations are detected and the diseases are usually named after the affected protein(s). It may begin at any age, ranging from early infancy to advanced ages, and in both genders.
 
Are Mitochondrial Myopathies a Genetic Disease?
They are a genetic or in other words hereditary diseases. The gene defect may involve the muscle cell or the mitochondria in muscle cells.
 
What Are the Symptoms of Mitochondrial Myopathies?
Since these diseases originate from mitochondria – the organelle that generates energy in our body- the most important sign is tiredness and muscle pain after activity (called exercise intolerance) along with muscle weakness in some. Symptoms aggravate if the energy need increases, such as in infection and intense sportive activity. It is necessary to seek medical advice immediately, if the muscle pain aggravates substantially and in association with weakness, high serum CK. This clinical picture is called ‘rhabdomyolysis’ and is an emergency condition (it may seldom develop) and it is necessary to protect renal functions in such patients. Although not seen in all types, another distinctive feature of this group of diseases is the involvement of different tissues such as heart, brain, eyes, liver and hormone systems. These problems have to be looked into and treated when necessary.
Mitochondria are energy generating centers of our cells. They mostly generate energy while sugars (glucose) and fats (lipid) are metabolized into small pieces in our body. Therefore, healthy contraction of muscles may sometimes be affected in some diseases of this group due to accumulation of fats (lipid) and sugar (glycogen) in muscles. Long fasting periods aggravate symptoms especially in patients who cannot properly generate energy from lipids.
 
How are Mitochondrial Myopathies Diagnosed and Treated?
Genetic testing and some other blood tests assist in a definitive diagnosis.
Lifelong use of some medications may help a complaint-free life in a very small part of these cases. There is no known treatment in most of them. Treatment studies are ongoing. Aerobic exercises are obviously useful for increasing performance to alleviate the exercise intolerance. Based on the final diagnosis, certain patients may require close cardiac and respiratory follow-up. For patients with lipid pathway disorder, it is very crucial to avoid long-term fasting and intense exercise.

It is a type of muscle disease. The body cannot synthesize certain enzymes that act like a ‘scissor’ to cut glycogen into small pieces inside the muscle cells and therefore, glycogen (sugar) accumulates in the system that metabolizes it, resulting in impaired functioning of the muscle.
 
Is Pompe Disease a Genetic Condition?
It is a genetic or in other words hereditary disease.
 
What Are the Symptoms of Pompe Disease?
The major symptom is muscle weakness. There are two main types of the disease: Early-onset (Infantile) Pompe Disease develops in infancy during the first year of the life. These babies gradually progress into a ‘hypotonic baby’ and lose the ability of movement. One of the most distinctive features is cardiomegaly (abnormally large heart) and heart failure. Moreover, nutritional problems also develop.
Late-onset (Adult Type) Pompe Disease begins in adolescence or adulthood; it progresses very slowly. However, respiratory problems may emerge long before the patients lose motor skills (while patients are still walking) due to progression of the disease. Some patients do not recognize or complain of respiratory problems, as the disease develops very slowly and the affection of respiratory muscle is very insidious. Therefore, early definitive diagnosis and starting early respiratory follow-up along with neurologic monitoring is very important. Pulmonary evaluations should be done both in sitting and lying positions and even during sleep. An intermediate form (Juvenile type that develops in childhood) that is somewhat located between the above-mentioned two types of the disease may also develop. Respiratory problems are more severe in such patients and scoliosis may become aggravated by these problems.
 
How is Pompe Disease Diagnosed and Treated?
Detecting the level of the related enzyme (acid alpha glucosidase) is important. However, the definitive diagnosis depends on the detection of genetic defects of the related gene.
Early diagnosis is very critical for this disease. It is among very rare genetic diseases with a known treatment. There is a serum treatment that should be taken for a lifetime. However, there are also other important therapeutic approaches, such as neurologic and respiratory follow-up, pediatric endocrinology and cardiology follow-ups for babies, replacement therapies and use of portable respiratory devices, if required.

It is a type of muscle disease. Muscle cells generate energy on their own. They need to metabolize intracellular glycogen and lipids into small fragments to generate energy. In McArdle disease, the body cannot produce the enzyme myophosphorylase that acts like the first ‘scissor’ to cut glycogen into small pieces.
 
Is McArdle Disease a Genetic Disorder?
It is a genetic or in other words hereditary disease.
 
What Are the Symptoms of McArdle Disease?
Since the body cannot synthesize myophosphorylase, permanent muscle weakness does not develop. It is manifested by stiffness, pain and tiredness in muscles particularly used for movements that are quickly repeated or require intense power instantly. For example, running is more difficult than walking in these patients. Carrying a heavy shopping bag leads to tiredness, stiffness and pain in arms. Urine appears brown to red, like ‘coke’, if strenuous activities are prolonged. When tiredness occurs during fast movement and if the patient rest for several minutes, they may be able to continue the movement as the muscle cells gain time to use lipids instead of glycogen to generate energy (the ‘second wind phenomena’). Ascending stairs, sometimes, lead to palpitation and shortness of breath, but a cardiac or respiratory disease cannot be detected upon cardiological evaluation.
The disease develops in childhood or adolescence. Since there is not a permanent muscle weakness, these patients limit their own movement capabilities starting from childhood and they do not run or exercise much. In fact, this approach of gaining a sedentary lifestyle makes exhaustion and stiffness even worse. Aerobic exercise enhances performance and facilitate the second wind phenomena in these patients.
One of the major problems is the social label of ‘being lazy’, as these patients are not regarded as an individual with a muscle disease especially in normal work life, i.e. they do not have a permanent muscle weakness and they do not ‘look sick’. Our patients also face such problems when they seek a medical report, as physical examination tends to seemingly normal without some maneuvers.
 
How is McArdle Disease Diagnosed and Treated?
The definitive diagnosis is instituted by genetic testing.
There is no known medication for treatment of the disease. Appropriate aerobic exercise programs do increase performance.