True, spinal amyotrophy Kennedy is an incurable disease. AR gene (Kennedy spinal-bulbar amyotrophy), identification of frequent mutations. Carriage of a deletion of the SMN gene. Spinal-bulbar amyotrophy Kennedy

Benign spinal amyotrophy Kugelberg-Welander(syn. pseudomyopathic, or juvenile, amyotrophy, spinal progressive juvenile amyotrophy) is characterized by a slowly progressive course with the development of weakness, atrophy, twitching of the muscles of the trunk and proximal limbs. A number of authors consider the disease as a benign variant of Werdnig-Hoffmann disease.

The disease can begin between the ages of 3 and 17 years. Atrophic paresis and muscle twitching appear predominantly in proximal parts limbs. Often, patients experience excessive development of subcutaneous fat, masking the development of atrophy and muscle twitching. Gradually the process spreads, but patients for many years (up to old age) can retain the ability to independent movement. Arand-Duchenne disease (spinal amyotrophy of adults) begins at the age of 40-60 years. Gradually, progressive atrophy of the muscles of the distal (remote from the body) parts of the extremities (mainly the hands) occurs.

Further, the proximal limbs, muscles of the pelvic and shoulder girdle. Twitching is observed in the affected muscles, and trembling is observed in the muscles of the tongue. The course is slowly progressive. Death usually occurs from bronchopneumonia. A number of authors do not recognize Arand-Duchenne disease as spinal amyotrophy.

Neural amyotrophy The main form of neural amyotrophy is Charcot-Marie-Tooth disease, as well as some more rare diseases, whose belonging to neural amyotrophies has not been fully proven (for example, interstitial hypertrophic neuropathy Dejerine-Comma, clinically very similar to Charcot-Marie-Tooth amyotrophy).

Neural amyotrophy of Charcot-Marie-Tooth (syn. peroneal muscular atrophy) is characterized by the development of paralysis in the distal limbs and sensitivity disorders of the polyneuritic type. There are no muscle twitches.

The onset of the disease most often occurs in the age range from 10 to 20 years. Early symptoms are weakness and atrophy of the peroneal muscles with the gradual development of the so-called “cock” gait. Atrophic paresis increases very slowly; V late stages Brushes are also involved in the process. Tendon reflexes disappear. Pain, disturbances in skin sensitivity in the legs, as well as a slight decrease in sensitivity are common. Coordination of movements and pelvic functions are not impaired. The course is slowly progressive. Patients often live to a ripe old age, maintaining the ability to self-care and even being able to work.

DIAGNOSTICS Play an important role in diagnosis clinical features course of the disease, family interviews, as well as special electrophysiological and morphological research methods.

Spinal amyotrophies are characterized by damage nerve cells spinal cord. Atrophy and the reaction of muscle degeneration in the study of electrical excitability, twitching, and asymmetry of the lesion are typical for them.

It should be differentiated from progressive muscular dystrophies, neuroinfections (poliomyelitis) and amyotrophic lateral sclerosis.

Neural amyotrophies occur when motor fibers or roots are damaged peripheral nerves. Diagnosis is difficult. There are many rare forms of neural amyotrophy, which can only be distinguished using special studies (biopsy cutaneous nerve, determining the speed of transmission of excitation along the nerve, clarifying data from examinations of the patient’s family members, etc.). Charcot-Marie-Tooth amyotrophy is differentiated from polyneuropathies (the latter develop much faster, even with a chronic nature of the lesion), myopathies (electromyography and conduction velocity studies nerve impulse indicate a neurogenic mechanism for the development of amyotrophy), infectious polyneuritis and neuroinfections (the composition of the cerebrospinal fluid in amyotrophy is normal).

TREATMENT Treatment of neurogenic amyotrophy is symptomatic, complex and lifelong. Use vitamins B, E, glutamic acid, aminalon, proserin, dibazol. Periodically, courses of anabolic steroids are administered. In addition to pharmacotherapy, regular courses of massage, exercise therapy, different kinds physiotherapy, balneotherapy. With impaired mobility in the joints and skeletal deformities, patients require orthopedic correction.

Amyotrophy bulbospinal late Kennedy It manifests itself in adulthood, most often at 20–40 years of age, with generalized fascicular twitching, moderate weakness and muscle atrophy. In this case, deep reflexes are usually reduced or absent. Proximal amyotrophies predominate, affecting primarily the muscles of the pelvic girdle. Subsequently, the pathological process slowly spreads, damaging the muscles of the shoulder girdle, tongue, and pharynx. This is characterized by moderately pronounced manifestations bulbar syndrome(see), weakness of masticatory and facial muscles. The development of the myodystrophic process leads to fatigue when walking, changes in gait, and difficulty in climbing stairs, which slowly increase. Tremors and convulsions of the crampi type are possible (see Crampi). The course is benign. Very rare. Common endocrine disorders: diabetes, dysfunction of the gonads (gynecomastia, infertility). Histological studies reveal degeneration of some peripheral motor neurons, moderate gliosis in the anterior horns of the spinal cord and in the motor nuclei of the trunk. Inherited in a recessive manner linked to the X chromosome. Described in 1968 by the American neuropathologist W.R. Kennedy et al.

FÖRSTER-KENNEDY SYNDROME (syndrome of the base of the frontal lobe of the brain). Etiology and pathogenesis. Tumor process at the base of the frontal lobe of the brain, meningioma, abscess of the frontal lobe of the brain, sometimes arachnoiditis in the chiasma, less often - sclerosis of the internal carotid artery. Phenomena retrobulbar neuritis on the side of the lesion develop due to compression of the intracranial part optic nerve, congestion of the optic disc on the opposite side occurs as a result of increased intracranial pressure.

Clinical picture . The syndrome is characterized by the following symptoms: simple primary atrophy the optic nerve on the side of the lesion in the brain; congestive optic disc on the opposite side; absence or decreased sense of smell according to the side of the lesion; symptoms of a disorder in the patient’s “frontal” psyche, a tendency to joke, lack of understanding of the severity of his situation.

The development of the syndrome begins with the appearance of a central scotoma and decreased vision in one eye, while no visible changes are yet noted in the fundus. Optic nerve atrophy occurs later, with more pronounced blanching of the temporal half of the optic nerve head. In the second eye, after some time, a congestive optic disc develops, followed by transition to secondary atrophy. Visual acuity of this eye long time remains quite high and begins to worsen as secondary atrophy develops. Changes in the visual field are also observed: concentric narrowing of the peripheral boundaries, binasal or bitemporal hemianopsia. Binasal inferior quadratic hemianopsia indicates chiasmatic arachnoiditis (see).

The so-called reverse Förster-Kennedy syndrome is a rarity - a congestive optic disc on the side of the pathological intracranial process and simple atrophy of the optic nerve on the opposite side. In this case, the syndrome occurs due to circulatory disorders or due to a peculiar growth of the tumor, leading to pressure on the intracranial part of the optic nerve of the opposite side.

Diagnosis placed on the basis of the clinical picture. Differentiate from retrobulbar neuritis. The presence of Förster-Kennedy syndrome is indicated by dysfunction of the central nervous system, changes revealed by skull radiography, and congestive optic disc of the second eye.

Treatment aimed at eliminating the cause that caused the development of the syndrome. In case of tumor process - surgical treatment.

Forecast. Treatment carried out in initial stage process, allows you to save some vision. In advanced stages, the prognosis is unfavorable.

Using xGen NeuroGen 1.0 you will have access to more detailed information about hereditary neuromuscular diseases and optimize the diagnostic process ( detailed information O diagnostic system xGen NeuroGen 1.0 at http://www.xgen.ru/ng.htm).

Author - Doctor of Medical Sciences Elena Leonidovna Gave a Letter to the Author

SPINAL AND BULBAR MUSCULAR ATROPHY KENNEDY (OMIM: )

Kennedy W. et al., in 1968, described 2 unrelated families with 9 affected men.

CLINIC

The disease manifests itself between the ages of 21 and 40 years, with the appearance of signs of peripheral paralysis in the proximal arms and supraspinatus and infraspinatus muscles. In some cases, the first signs of the disease are pronounced fasciculations in the muscles of the shoulder girdle and face, as well as tremor outstretched arms. As the disease progresses in pathological process the muscles of the proximal legs and pelvic girdle are involved. When the lesion spreads to the nuclei of the bulbar group of cranial nerves, symptoms of bulbar paresis occur, manifested by dysphagia, dysphonia, decreased pharyngeal and palatal reflexes, and tongue fasciculations. Some patients experience endocrine disorders, which are caused by dysfunction of the hypothalamus, androgen deficiency and an increase in estrogen concentrations. In some cases, signs of testicular atrophy, infertility and gynecomastia are found. Patients with severe sensitivity disorders are described. According to a number of authors, sensory disturbances are specific signs of this form of the disease, which, along with bulbar disorders, distinguish it from other variants of late-onset spinal amyotrophies. In a number of patients, the occurrence of pseudohypertrophy was noted calf muscles.

ELECTRONEUROMYOGRAPHY

The electromyogram reveals signs of damage to the motor neurons of the spinal cord.

BIOCHEMISTRY

Characteristic is a decrease in the concentration of androgens in the blood and an increase in estrogen. Some patients experience a slight increase in creatine phosphokinase levels and hypobetalipoproteinemia.

MORPHOLOGY

A pathomorphological examination of the patients' brains reveals signs of degeneration and a decrease in the number of motor neurons in the anterior horns of the spinal cord, as well as the nuclei of the cranial nerves, as well as signs of damage to the sensory fibers of the peripheral nerves.

GENETICS

The type of inheritance is X-linked recessive.

ETIOLOGY

Androgen receptor gene (AR, OMIM: 313700), mutations in which lead to the development of the disease are mapped to the Xq12 region and have a length of about 90 thousand bp. The AR gene includes 8 exons (see figure), which together amount to about 2750 bp. Type of mutation - expansion of trinucleotide CAG repeats in the first exon of the gene from 40 to 55 (normally the number of repeats ranges from 17 to 24). The dependence of the severity of the disease on the number of repetitions is shown. Meiotic instability of repeats is noted, however, anticipation is not observed.

PATHOGENESIS

It is believed that the pathogenesis of the disease is based on impaired processing of mutant forms of the androgen receptor. After hormonal activation, the adrenergic receptor should normally be translocated into the cell nucleus, while mutant forms of the protein with an extended polyglutamine track remain in the cytoplasm. Mutant forms of the protein that are resistant to proteolysis are neurotoxic and can cause a cytotoxic effect similar to apoptosis.

PREVENTION

Prenatal diagnosis and diagnosis of carriage of mutations in the heterozygous state in maternal relatives of the patient are possible.

LITERATURE

SAs are a heterogeneous group hereditary diseases peripheral nervous system, which are characterized by pronounced clinical polymorphism.

Spinal muscular atrophy (or SA) is a heterogeneous group of inherited diseases that involve damage and loss of motor neurons anterior horns of the spinal cord.

Amyotrophy is a disorder of muscle trophism, accompanied by thinning muscle fibers and a decrease in their contractility, caused by damage to the nervous system: motor neurons (at various levels of the central nervous system - neurons of the motor cortex, brainstem nuclei, anterior horns of the spinal cord) or peripheral nerve fibers. The disease is considered hereditary as a result gene mutations, although if we look at the medical histories, then in many patients there is no family history.

There are hereditary and symptomatic amyotrophies. Neurogenic hereditary amyotrophies are divided into two large groups - spinal and neural amyotrophies. In most cases, spinal forms are more severe. These include: spinal amyotrophy (Werdnig-Hoffmann disease), pseudomyopathic progressive spinal amyotrophy Kugelberg-Welander, rare forms of spinal amyotrophy and undifferentiated forms. Neural amyotrophies: Charcot-Marie-Tooth disease, Dejerine-Sotta hypertrophic neuropathy, Roussy-Lewy syndrome, ataxic polyneuropathy or Refsum disease, as well as undifferentiated forms.

SAs are also divided into adults and children. Proximal AS of childhood include: acute malignant infantile AS Werdnig-Hoffmann (spinal amyotrophy type 1), chronic infantile AS (spinal amyotrophy type 2), juvenile AS (Kugelberg-Welander disease), rare forms of AS in childhood: infantile neuronal degeneration, congenital form Peliceus-Merzbacher disease, congenital cervical SA, atypical variant GM gangliosidosis, infantile progressive bulbar palsy (Fazio-Londe syndrome), pontobulbar palsy with deafness (Vialetto-Van Laere syndrome).

Adult SA: Kennedy bulbospinal amyotrophy, distal SA, segmental SA, monomyelic SA, scapuloperoneal Stark-Kaiser SA, facioscapulohumeral SA Fenichel, oculopharyngeal SA. There are also undifferentiated forms of SA with a rapidly progressive, slowly progressive and non-progressive course.

According to the recommendation of the European Consortium for the Study of Neuromuscular Diseases, clinical criteria spinal muscular amyotrophy are: [ 1 ] symmetrical muscle hypotonia and malnutrition, [ 2 ] fasciculations of various muscle groups, [3 ] hypo- or areflexia of the muscles of the limbs, [ 4 ] absence of sensory, cerebellar and intellectual disorders.

note! There are no pathognomonic changes in spinal muscular amyotrophy. However, it is important to determine the activity of serum creatine kinase: it is believed that exceeding its norm by more than 10 times is characteristic of muscular dystrophy and contradicts the diagnosis of spinal muscular amyotrophy.

read also the post: Creatine kinase (neurologist's reference book)(to the website)

Electroneuromyography (ENMG) reveals symptoms of damage to peripheral motor neurons: spontaneous muscle activity, an increase in the duration and amplitude of action potentials of motor units with a normal speed of impulse conduction along the afferent and efferent fibers of the peripheral nerves. At histological examination Muscle biopsies reveal signs of denervation muscle atrophy.

Classic adult proximal SA begins in the 3rd decade of life and is inherited in an autosomal recessive manner. SA usually debuts between 40 and 50 years old, however, there are cases with onset in adolescence. The distribution of muscle weakness in the autosomal dominant type is in some cases much wider than in the autosomal recessive type. Proximal muscles are also more severely affected than distal muscles. Symptoms progress slowly, motor functions and the ability to walk in the overwhelming majority of patients remains in adulthood and even in old age. Weakness of the bulbar muscles is not typical. Oculomotor muscles are not affected. Tendon reflexes are depressed or absent. Joint contractures are rare. CPK levels are normal or slightly elevated. The following forms of adult SA will be considered:

1. bulbospinal amyotrophy Kennedy;
2. distal SA;
3. segmental SA;
4. monomyelic SA;
5. Stark-Kaiser scapuloperonial SA;
6. Facioscapulohumeral SA Fenichel;
7. oculopharyngeal spinal amyotrophy.

Bulbospinal amyotrophy Kennedy. A rare X-linked form of spinal amyotrophy; debuts in the 4th decade of life, although cases of first manifestations are occasionally noted at 12 - 15 years. Ken is mapped on the long arm of the X chromosome in the Xq21-22 segment. The mutation affects the androgen receptor gene and represents an expansion of the nucleotide triplet (cytosine - adenine - guanine). The core of the clinical picture of the disease consists of weakness, atrophy and fasciculations in the proximal muscle groups of the limbs, tendon areflexia, weakness of facial muscles, atrophy and fasciculations in the tongue, perioral fasciculations, dysarthria and dysphagia (the latter is not a prognostically unfavorable sign), postural tremor and cramps. Rarely, axonal neuropathy develops. Bulbar disorders usually occur 10 years after the onset of the disease. Endocrine disorders are characteristic: gynecomastia (!), testicular atrophy, decreased potency and libido, diabetes mellitus. A third of patients suffer from infertility caused by azoospermia. Manifestations of feminization and hypogonadism are probably associated with the insensitivity of defective androgen receptors to male sex hormones (their levels in patients remain normal). The prognosis of the disease is generally favorable. Walking and the ability to self-care are preserved. Life expectancy is not shortened. However, there is increased risk malignant tumors due to hormonal imbalance(breast cancer), which requires oncological alertness. The disease must be distinguished from ALS. Currently, it is possible to carry out direct DNA diagnosis of the disease, establish heterozygous carriage and carry out prenatal diagnosis.

Distal SA. Autos.-recess. the form can begin in early childhood, while autos.-dominant. form - at 23 - 25 years old. With both types of inheritance, severe clinical forms, and shapes moderate severity. The disease begins with weakness and atrophy of the anterior group of muscles of the legs, which are accompanied by deformities of the feet. Tendon reflexes may be preserved. The clinical picture may resemble NMSI type I, but in AS, sensitivity is not impaired. In case of severe autorecesses. forms muscle weakness gradually spreads to the proximal muscles of the legs and sometimes the arms. The degree of weakness in the arms varies between different families, but is almost the same among representatives of the same family. Approximately 25% of patients have scoliosis. In some families, affected individuals may exhibit pseudohypertrophy or atrophy of the calf muscles. ENMG data make it possible to distinguish the disease from peripheral neuropathy: the conduction velocity along motor axons is normal, despite signs of total denervation of the small muscles of the foot. Sensory evoked potentials are also normal. CPK levels are normal, sometimes moderately elevated.

Segmental SA: affects only the hands or only the feet; the disease is characterized by genetic heterogeneity: autos.-dom. inheritance is typical for the adult-onset form; auto.-recess. - for the form that begins in adolescents, mainly boys. Atrophy of the hands, as a rule, is asymmetrical, progresses over 2 to 4 years and sometimes affects the forearms. Fasciculations and cramps are characteristic. Usually the growth of arthophia stops over time, but in some cases the leg muscles are involved.

Monomelic SA: This rare form affects the muscles in the arm or leg. Most cases have been reported in Japan and India. Monomelic SA usually occurs as sporadic cases with a male preponderance of 10:1, suggesting an X-linked recessive type inheritance. The age of debut varies from 10 to 25 years. Weakness and muscle atrophy increase unnoticed. The arm is more often affected than the leg. The weakness may be distributed only proximally, only distally, or involve the entire limb. The atrophy is initially unilateral and occurs in muscles innervated by the C7, C8, and Th1 spinal segments. Bilateral muscle weakness usually develops within 2 years. Unilateral or bilateral postural tremor of the hands is often observed. Fasciculations in proximal muscle groups precede the onset of weakness and atrophy. The progression of the disease is slow and after 5 years, as a rule, stabilization occurs. However, after 15 years, another limb may be involved in the pathological process. Other causes of monoplegia must be excluded.

Scapuloperoneal SA Stark-Kaiser. This rare form SA is genetically heterogeneous. Cases inherited in an autosomal dominant manner debut in the 3rd-4th decade of life and have a relatively benign course, while cases with autosomal recessive inheritance debut in 3-5 years. Linkage to the 12q24 locus is suggested. In some patients, a mutation is detected in the SMN gene of chromosome 5, which casts doubt on the nosological independence of a number of cases of scapuloperoneal SA and indicates a unique variant of proximal SA gene expression. Weakness and muscle atrophy predominate in the glenohumeral muscle group and the extensors of the foot. Atrophy may slowly spread to the proximal parts of the legs and the muscles of the pelvic girdle. Differential diagnosis carried out with scapuloperoneal myodystrophy.

Facioscapulohumeral SA Fenichela. A rare autosomal recessive form of SA that begins in the 2nd decade of life. The gene has not yet been mapped. The disease mimics Landouzy-Dejerine's facioscapulohumeral myodystrophy, but tendon reflexes are usually absent and muscle strength is slightly reduced. The EMG shows a neuronal-axonal type of lesion. CPK activity is normal. A number of researchers dispute the nosological independence of this form and consider it within the framework of Landouzy-Dejerine disease.

Oculopharyngeal SA. An autosomal dominant mode of inheritance is assumed. The disease usually begins in the 4th decade of life with external ophthalmoplegia, dysphagia and dysarthria. In some cases, weakness occurs in the distal limbs and back muscles. The course is slow and benign. Sometimes the disease is considered within the framework of mitochondrial myopathies.

source: materials from the manual for doctors “Diseases of the Nervous System”, ed. N.N. Yakhno, D.R. Shtulman, ed. 2nd, volume 1; Moscow, "Medicine", 2001 (as well as the articles listed below).

read also:

article " Clinical case late onset of spinal amyotrophy in an adult patient - a stage in the development of amyotrophic lateral sclerosis?” T.B. Burnasheva; Center Israeli Medicine, Almaty, Kazakhstan (magazine “Medicine” No. 12, 2014) [read];

article “Clinical case of late onset of undifferentiated spinal amyotrophy” Goncharova Y.A., Simonyan V.A., Evtushenko S.K., Belyakova M.S., Evtushenko I.S.; State Institution “Institute of Emergency and Reconstructive Surgery named after. VC. Gusak NAMS of Ukraine", Donetsk National medical University them. M. Gorky (International Neurological Journal, No. 5, 2012) [read];

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Adult form of spinal muscular atrophy, distinctive feature which is slow and relatively favorable. Manifests itself as a combination of flaccid paresis of the proximal muscle groups of the limbs, bulbar syndrome and endocrine disorders. The diagnostic search is carried out using electroneuromyography, muscle biopsy examination, genealogical analysis, DNA diagnostics, and androgen profile assessment. Symptomatic therapy: anticholinesterase drugs, nootropics, L-carnitine, vitamins, physiotherapy, massage.

General information

Bulbospinal amyotrophy Kennedy - genetically determined rare pathology nervous system, accompanied endocrine disorders. It owes its name to the American neurologist V. Kennedy, who first described it in detail in 1968. Inherited recessively linked to the X chromosome. Along with scapuloperoneal, distal, monomelic, oculopharyngeal muscle atrophy In clinical neurology, Kennedy amyotrophy refers to adult forms of spinal amyotrophy. Her debut occurs after the age of 40.

According to world statistics, the prevalence is at the level of 25 cases per 1 million people. At the end of the twentieth century, only 10 verified familial cases of bulbospinal amyotrophy were registered in Russia. This rarity may be due to insufficient accurate diagnosis, as a result of which the disease is interpreted as amyotrophic lateral sclerosis.

Causes of amyotrophy Kennedy

The genetic substrate of the disease is the expansion (increase in the number of repeats) of the CAG (cytosine-adenine-guanine) triplet in the androgen receptor gene, localized in the Xq21-22 region long shoulder X chromosomes. The core of pathogenesis is degenerative changes nuclei of the brain stem and anterior horns of the spinal cord. Damage to the trunk leads to the development of bulbar syndrome and occurs 10-20 years after the appearance of peripheral paresis associated with damage to the spinal motor neurons of the anterior horns.

X-linked inheritance of bulbospinal amyotrophy causes the incidence of the disease predominantly in males. A woman can get the disease if she inherits one defective X chromosome from her mother and the second from her father. However, in women, Kennedy amyotrophy has a milder course, severe cases are observed rarely, a subclinical form is possible.

Symptoms of amyotrophy Kennedy

The manifestation of the disease, as a rule, occurs between 40 and 50 years. It typically begins with slowly progressive weakness in the proximal extremities: the shoulders and hips. Paresis is accompanied by fascicular twitching, muscle hypotonia, atrophy muscle tissue, fading tendon reflexes; gradually spread somewhat more distally. The sensitive area remains intact. There are no pathological pyramidal signs.

After 10-20 years from the onset, perioral fasciculations, bulbar manifestations (dysphagia, dysphonia, dysarthria), fasciculations and atrophic changes language. Joint contractures may form. Fasciculations of the perioral muscles act as a marker of bulbospinal amyotrophy. They are rapid involuntary contractions of the muscles located around the mouth, leading to twitching of the corners of the mouth or stretching of the lips in a tube.

Kennedy amyotrophy is often accompanied by endocrine pathology. Sick men experience gynecomastia, decreased libido, impotence, and testicular atrophy. About a third are diagnosed with male infertility associated with azoospermia. Diabetes mellitus is observed in 30% of cases. Symptoms of hypogonadism and signs of feminization appear against the background normal indicators blood testosterone and, most likely, are caused by a defect in androgen receptors, which consists in their insensitivity to male hormones.

Diagnosis of amyotrophy Kennedy

Treatment and prognosis of amyotrophy Kennedy

Held symptomatic treatment, mainly aimed at maintaining the metabolism of nerve and muscle tissues. As a rule, patients are prescribed nootropics (gamma-aminobutyric acid, piracetam), B vitamins, L-carnitine, a drug from pig brain, anticholinesterase drugs (ambenonium chloride, galantamine). For the same purpose, massage and physical therapy are indicated, increasing blood supply, and therefore metabolism, to the affected muscle groups. In addition, massage and exercise therapy help prevent the formation of joint contractures. Some researchers note positive effect from long-term course use of testosterone drugs. However a large number of negative effects testosterone limits its widespread use.

The prognosis for Kennedy amyotrophy is relatively favorable. Thanks to its slow progression, patients retain the ability to move and self-care. Life expectancy is no less than in the general population. However, due to hormonal disorders available increased likelihood development malignant neoplasms, in particular -