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The various genetic diseases


Familial deafness - Congenital deafness occurs at a frequency of 1:1000 newborns. This is a heterogeneous group - there are many causes of deafness of which 2/3 are genetic and 1/3 are not. Non-genetic causes usually manifest as unilateral, asymmetric hearing impairment...

Muscle diseases and muscular dystrophy - There are dozens of different types of muscle diseases. They differ according to their clinical and laboratory characteristics. Age of onset of signs of the disease - in some diseases, the muscle disorder appears immediately after birth or in infancy...

Limb girdle muscular dystrophy - This is a group of diseases with similar clinical manifestations. The diseases are marked by progressive weakness of the muscles, mainly the pelvic and pectoral girdle muscles. This is not one disease, but rather a group of diseases involving two...

Facioscapulohumeral muscular dystrophy (FSHD) - This is one of the more common diseases in the group of muscular dystrophies, and is second in frequency to Duchenne muscular dystrophy. The muscle weakness usually starts in the muscles of facial expression. The weakness progresses and usually by...

Limb Girdle Muscular Dystrophy (LGMD) - This disease, which is called Limb Girdle Muscular Dystrophy (LGMD), is one of a heterogeneous group of muscular dystrophies. It is characterized by muscle weakness that commences in the waist and shoulder girdle muscles. This can be demonstrated...

Inclusion body muscular dystrophy (HIBM) - This is a type of progressive muscular weakness accompanied by the appearance of typical microscopic changes in the muscle (inclusion bodies). The muscle weakness starts in the lower limbs. Typically, the muscles at the front of the thighs remain...

Fragile X syndrome - Fragile X syndrome causes mental retardation, and is the second most common cause of hereditary mental retardation after Down syndrome. The disease has this name because a break occurs in the lower part of the X chromosome in cytogenetic testing...

Congenital bone diseases - achondroplasia - Achondroplasia is well known to the public - affected individuals have marked shortening of the limbs, while the trunk is almost completely normal. Because of this, when they are sitting down they do not appear to be so short - only when they are...

Polycystic kidney disease - Polycystic kidneys - this term refers to the presence of multiple liquid-containing vesicles (cysts) in the kidney tissue. These cysts contain urine and there can be a very large number of them. There are two types of the disease: The severe type...

Neurofibromatosis - This disease manifests mainly as many spots that appear on the skin from the age of 6 years, called cafe au lait spots. These have an elliptic form, and occur mainly on the skin of the abdomen, buttocks, rear thigh, etc. These spots may increase in...

Autism - Pervasive Developmental Disorder (PDD) - There are a number of diseases characterized by a clinical picture similar to autism or that have autistic traits: These include fragile X syndrome, a test for which should be carried out in all such cases, and other syndromes with or without mental...

Cerebral palsy (CP) - Cerebral palsy is characterized by damage to the motor components of the central nervous system (brain damage), and it manifests as muscle weakness or spastic muscle paralysis (rigidity of muscles). In most cases, CP is defined as damage to brain...

Mental illnesses - psychiatric problems - The term mental illness encompasses several different disorders including schizophrenia, depression (depressive illness), manic-depressive disorder, etc. The causes of these diseases are currently unknown, but they are probably varied and diverse...

Spinal muscular atrophy (SMA) - The disease is marked by significant muscle laxity and weakness. There are no tendon reflexes. The EMG and muscle biopsy show a typical picture. There are fine involuntary movements of the muscle, known as fasciculations, which can be seen in the...

Duchenne and Becker muscular dystrophy - Both these conditions occur as a result of a mutation in the dystrophin gene. The mutation is expressed in both conditions in males, although there are always rare exceptions. The affected children are born normal and early development is normal...

Congenital muscular dystrophy - Signs of muscle weakness with or without fixation of the joints (arthrogryposis) appear at a very early age, usually at birth. In contrast to Duchenne muscular dystrophy, this disease is not progressive, at least not to any significant extent. In the...

Hemophilia - The severity of the condition depends on the degree of deficiency of the hemostasis factor. In severely affected patients, the activity of the factor is less than 7% of normal. Half of all hemophiliacs belong to this category. Due to the inability...

Albinism - The common denominator in most types is the absence of pigment mainly in the fundus of the eye, which can be seen on examination by an ophthalmologist. In most cases, reduced pigmentation of the skin and sometimes of the hair is also present...

Epilepsy - convulsions - This is a group of disorders in the electrical activity of the brain, manifesting in convulsions. A convulsive episode is the expression of sudden, uncontrolled electrical activity in a specific area in the brain...

Williams syndrome - This is a syndrome caused by a deletion of a small segment of the long arm of chromosome 7 (7q11) in the region of a gene called elastin. Elastin is a component of connective tissue in the body that supports the tissues, joints and bones...

Tourette syndrome - This is a neurological syndrome characterized by motor and vocal tics (uttering involuntary sounds and making involuntary movements) and obsessive-compulsive disorder. The motor tics appear before the vocal tics. Seventy-five percent of the patients...

Rett syndrome - This is a developmental neurological syndrome that affects mainly females. It was first described in 1966. The main characteristic is regression of development with age. A girl affected with Rett syndrome develops normally or almost normally until the...

Creutzfeldt Jakob syndrome - Creutzfeldt Jakob syndrome is a degenerative disease of the brain. The cause is not always genetic, and some people have been infected by injection of brain products (growth hormone that used to be extracted from brains) into their blood or by...

G6PD deficiency - This is a common disease in the Middle East. It causes anemia mainly following ingestion of certain substances such as fava beans, aspirin, and many other drugs. The disease can be diagnosed relatively easily immediately after birth. Affected...

Hypothyroidism - There are many causes of hypothyroidism, some of which are environmental and some genetic. Cases discovered in newborn babies immediately after birth are mostly genetic. There are many hereditary types - in each there is a deficiency of a different...

Hyperthyroidism - There are many causes of hyperthyroidism, most of which are environmental and a small proportion of which are genetic. The adult-onset cases are usually caused by non-genetic factors such as inflammation of the thyroid gland or other environmental...

Rubinstein Taybi syndrome - This results from a defect, usually the deletion of a small chromosomal segment, in the RTS gene, which is located on the short arm of chromosome 16. The deletion can extend to include the deletion of a number of additional genes next to the RTS gene...

Muscle diseases arising from disorders in the muscle respiratory chain complexes - These are metabolic disorders of the muscle arising from a defect in the complexes that provide the energy for the muscle. These complexes are composed of a large number of different proteins, and the activity of the complex depends on the correct...

Charcot Marie Tooth - CMT or Hereditary Motor and Sensory Neuropathy - This is a disease of the peripheral nerves. There is a defect in the sheaths of the nerves that conduct electrical stimuli from the brain to the muscles, and because of this damage to the nerve sheath (the myelin sheath), there is abnormal conduction...

Usher syndrome - This is a heterogeneous group of diseases. The association of sensorineural deafness and progressive retinitis pigmentosa is the hallmark of Usher syndrome. Usher syndrome is subdivided into 3 different...

Alpha-1 antitrypsin deficiency - Alpha-1-antitrypsin is a protease inhibitor, deficiency of which is associated with emphysema and liver disease. In most cases the disease is not severe and only rarely leads to liver failure...

Ataxia telangiectasia - Ataxia-telangiectasia (AT) is a hereditary disease that mainly affects the system that corrects spontaneously occurring chromosomal breakage, and as a result DNA damage, in the cells of the body. Clinically it is characterized by cerebellar ataxia...

Ceroid lipofuscinoses - The neuronal ceroid lipofuscinoses (CLNs) are a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Clinically, the neuronal ceroid...

Diastrophic dysplasia - Diastrophic dysplasia is a hereditary disease that mainly affects bone growth. Patients with this condition have scoliosis, a form of bilateral clubfoot, malformed pinnae with calcification of the cartilage, premature calcification of the costal...

Tuberous sclerosis - The disease involves a large number of body systems. It manifests as a wide variety of lesions, most of which are cutaneous (skin) with a risk of tumors, which are usually benign. Prominent signs are ash leaf-shaped bright, unpigmented spots. There may...

Myotonic dystrophy - Myotonia is a disorder of the cessation of movement – it is easy to induce it by asking the patient to grip tightly, whereupon it is difficult for him/her to release his or her grasp. There are 4 major types of clinical manifestation of myotonic...

Congenital diseases of the skeleton - general - Congenital bone diseases are a diverse group of congenital disorders of bone growth, which eventually manifest in an extreme shortening of stature. In the past, these conditions were known as dwarfism – a term not used nowadays. The stunting of...

Multiple epiphyseal dysplasia (MED) - This is a relatively common type of short stature. A significant number of patients have a stature that is not very short, and they are diagnosed as having a congenital skeletal disease. Affected individuals have a proportional, relatively short...

Spondylo-epiphyseal dysplasia (SED) - This is a heterogeneous group of diseases, all of which are characterized by flattened vertebrae with or without irregular borders and/or defects and a delay/disorder of the development of the heads of the long bones (epiphyses). There are different...

Osteogenesis imperfecta (defective mineralization of bone) - In this group of diseases the bones are relatively translucent. They are deficient in calcium and also lack other minerals. There are 4 main types: Type 1 and type 4 are similar – in both of these types, there is a tendency for fractures in the long...

Lethal types of skeletal disease - These are severe diseases that result in intrauterine death or death up to the age of a few weeks. There are a number of types: One is osteogenesis imperfecta type 2 (see: Osteogenesis imperfecta (defective mineralization of bone)) in which a defect...

Other metabolic disorders of bone - hypermineralization of the bone, etc. - These are skeletal diseases that are associated with excess calcium and other minerals in the bone, and other metabolic disorders of bone. They are relatively rare. They differ in the type of disorder, the part of the bone most affected...

Angelman syndrome and Prader Willi syndrome - Prader Willi syndrome manifests as a combination of features; in infancy there is muscle flaccidity and dysphagia (problems with swallowing) that result in inadequate weight gain at this time. This later changes to polyphagia (overeating) and obesity...

Multiple sclerosis - In Multiple sclerosis disease there is localized damage in the white matter of the brain that manifests in neurological deficits corresponding to the region of the brain where the damage has occurred. Multiple sclerosis disease occurs paroxysmally...

 

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