Myopathy, and Bruising susceptibility

Diseases related with Myopathy and Bruising susceptibility

In the following list you will find some of the most common rare diseases related to Myopathy and Bruising susceptibility that can help you solving undiagnosed cases.

Top matches:

Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).

DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME Is also known as hardcastle syndrome|myopathy, limb-girdle, with bone fragility|bone dysplasia with medullary fibrosarcoma|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome|bone dysplasia-medullary fibrosarcoma syndrome|bdmf|bone dysplasia with maligna

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Osteopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME

Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.

STORMORKEN-SJAASTAD-LANGSLET SYNDROME Is also known as thrombocytopathy-asplenia-miosis syndrome|york platelet syndrome|thrombocytopathy, asplenia, and miosis|yps|stormorken syndrome

Related symptoms:

  • Short stature
  • Muscle weakness
  • Anemia
  • Fatigue
  • Myopathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about STORMORKEN-SJAASTAD-LANGSLET SYNDROME

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Other less relevant matches:

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

High match CUSHING DISEASE

Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Low match CADASIL

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

CADASIL Is also known as dementia, hereditary multi-infarct type|cadasil|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|casil|hereditary multi-infarct dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CADASIL

Top 5 symptoms//phenotypes associated to Myopathy and Bruising susceptibility

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Fatigue Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Joint hypermobility Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopathy and Bruising susceptibility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Visual loss Headache Cardiomyopathy Inguinal hernia Visual impairment Osteopenia Motor delay Thin skin Pain Global developmental delay Elevated serum creatine phosphokinase Depressivity Myalgia Talipes equinovarus Mental deterioration Edema Abnormal bleeding Migraine Muscular hypotonia Hernia Osteoporosis Failure to thrive Psychosis Generalized hypotonia Soft skin Hyperextensible skin Delayed speech and language development Blue sclerae Skeletal muscle atrophy Epicanthus Short stature

Rare Symptoms - Less than 30% cases

Sleep disturbance Abdominal pain Recurrent fractures Infertility Round face Lethargy Myopia Anxiety Arterial rupture Diabetes mellitus Kyphoscoliosis Nephrolithiasis Muscular dystrophy Abnormality of the foot Microcornea Poor suck Disproportionate tall stature Immunodeficiency Atrophic scars Bladder diverticulum Keloids Cataract Pes planus Telangiectasia of the skin Generalized hirsutism Ataxia Respiratory distress Spastic tetraparesis Tetraparesis Pectus excavatum Prominent forehead Joint laxity Pectus carinatum Encephalopathy Seizures Depressed nasal bridge Esotropia Recurrent pneumonia Hyperbilirubinemia Torticollis Subcutaneous hemorrhage Cognitive impairment Splenomegaly Hepatosplenomegaly Hemiplegia Low-set ears Venous thrombosis Aseptic necrosis Recurrent skin infections Hypokalemia Lipodystrophy Premature ovarian insufficiency Acne Menorrhagia Truncal obesity Generalized hyperpigmentation Bipolar affective disorder Cryptorchidism Adrenal hyperplasia Pituitary adenoma Onychomycosis Metrorrhagia Kyphosis Memory impairment Increased body weight Aphasia Flexion contracture Neoplasm Sensorineural hearing impairment Stroke-like episode Talipes Scarring Long philtrum Frontal bossing Downslanted palpebral fissures High palate Abnormal facial shape Hypertelorism Increased muscle fatiguability Subarachnoid hemorrhage Generalized muscle weakness Purpura Epistaxis Hypotelorism Stroke Scoliosis Thrombocytopenia Dilatation Anemia Limb muscle weakness Proximal muscle weakness Arachnodactyly High forehead Mitral valve prolapse Facial hypotonia Joint dislocation Hearing impairment Dental crowding Mitral regurgitation Perseveration Broad toe Abnormality of the mediastinum Abulia Arteritis Pulmonary lymphangiectasia Monocytosis Jaundice Prominent fingertip pads Retinal arteriolar tortuosity Chylothorax Hypochromic microcytic anemia Abnormality of the spleen B-cell lymphoma Short attention span Subcortical dementia Reduced factor IX activity Renal insufficiency Hypoplasia of olfactory tract Reduced factor XII activity Abnormal eyebrow morphology Juvenile myelomonocytic leukemia Reduced prothrombin activity Reduced factor X activity Abnormality of the subarachnoid space Intellectual disability Rod-cone dystrophy Focal sensory seizure Diffuse leukoencephalopathy Amaurosis fugax Mania Brachydactyly Hydrocele testis Decreased muscle mass Recurrent subcortical infarcts Webbed neck Hyperpigmentation of the skin Fine hair Low posterior hairline Cyanosis Hip dysplasia Wide intermamillary distance Lymphoma Abnormality of eye movement Triangular face Scintillating scotoma Ascites Highly arched eyebrow Thick vermilion border Falls Cafe-au-lait spot Lymphedema Neurodevelopmental delay Bilateral ptosis Paralysis Proximal placement of thumb Overfolded helix Cubitus valgus Abnormality of the thorax Pleural effusion Failure to thrive in infancy Nonarteritic anterior ischemic optic neuropathy Cholelithiasis Deep philtrum Bicuspid aortic valve Vasculitis Bilateral single transverse palmar creases Aortic valve stenosis Hydrops fetalis Pseudobulbar paralysis Hemolytic anemia Retinal dystrophy Developmental regression Facial palsy Abnormality of the eye Bradykinesia Abnormality of extrapyramidal motor function Myocardial infarction Hemiparesis Truncal ataxia EEG abnormality Atherosclerosis Shock Cranial nerve paralysis Leukoencephalopathy Nausea Abnormal electroretinogram Hypoglycemia Cerebral cortical atrophy Vertigo Pulmonic stenosis Vomiting Behavioral abnormality Dysphagia Babinski sign Tremor Fever Dementia Peripheral demyelination Inability to walk Sensory neuropathy Coma Tetraplegia Brain atrophy Urinary incontinence Abnormality of the skin Apathy Personality changes Abnormality of nervous system morphology Abnormality of visual evoked potentials Rhabdomyolysis Attention deficit hyperactivity disorder Emotional lability Optic neuropathy Generalized tonic-clonic seizures Lower limb muscle weakness Transient ischemic attack Reticulocytosis Exercise intolerance Varicose veins Cerebral ischemia Migraine with aura Muscle cramps Hypertonia Acute kidney injury Progressive encephalopathy Confusion Hyperreflexia Pallor Cerebral hemorrhage Scotoma Bulbar palsy Dysarthria Dysmetria Peripheral neuropathy Myoglobinuria Amyloidosis Impaired pain sensation Spasticity Exercise-induced myoglobinuria Exercise-induced muscle cramps Recurrent myoglobinuria Decreased mean corpuscular volume Astigmatism Sepsis Hypermetropia Bilateral talipes equinovarus Waddling gait Umbilical hernia Hyperkeratosis Patent ductus arteriosus Hypoplasia of the musculature Fragile skin Patent foramen ovale Severe muscular hypotonia Adducted thumb Delayed gross motor development Protruding ear Camptodactyly Telecanthus Arthralgia Narrow mouth Sloping forehead Cutis laxa Midface retrusion Aortic rupture Striae distensae Orthostatic hypotension Agitation Hypotension Hirsutism Obesity Abnormal eye morphology Poor head control High-frequency sensorineural hearing impairment Cleft soft palate Follicular hyperkeratosis Difficulty climbing stairs Congenital muscular dystrophy Increased susceptibility to fractures Easy fatigability Brachycephaly Cerebral atrophy Neoplasm of the endocrine system Fractures of the long bones Patchy osteosclerosis Histiocytoma Metaphyseal striations Presenile cataracts Fibrosarcoma Limb-girdle muscle atrophy Osteosarcoma Diaphyseal cortical sclerosis Limb-girdle muscle weakness Pathologic fracture Premature graying of hair Osteomyelitis Bowing of the legs Sarcoma Skeletal dysplasia Stenosis of the medullary cavity of the long bones Osteomyelitis leading to amputation due to slow healing fractures Congenital miosis Mitochondrial myopathy Upgaze palsy Abnormal platelet morphology Increased mean platelet volume Miosis Abnormal thrombocyte morphology Dyslexia Asplenia Abnormality of the musculature Severe short stature Abnormality of coagulation Hypocalcemia Prominent nose Ichthyosis Neurological speech impairment Skin rash Deeply set eye Increased circulating cortisol level Abdominal obesity Leukemia Wrist drop Microcephaly Progressive congenital scoliosis Spontaneous rupture of the globe Molluscoid pseudotumors Decreased pulmonary function Moderate myopia Premature rupture of membranes Strabismus Palmoplantar cutis laxa Arterial dissection Dural ectasia Thoracic kyphoscoliosis Lens luxation Generalized joint laxity Aortic dissection Growth delay Ptosis Aortic root aneurysm Gastroesophageal reflux Broad forehead Sparse hair Postnatal growth retardation Feeding difficulties in infancy Low-set, posteriorly rotated ears Macrotia Polyhydramnios Feeding difficulties Posteriorly rotated ears Abnormality of cardiovascular system morphology Atrial septal defect Short neck Anteverted nares Optic atrophy Macrocephaly Atypical scarring of skin Keratoconus Decreased circulating ACTH level Abnormality of metabolism/homeostasis Joint hyperflexibility Dolichocephaly Retinopathy Hyperlordosis Neonatal hypotonia Glaucoma Congestive heart failure Retinal detachment Blindness Respiratory insufficiency Primary hypercortisolism Macronodular adrenal hyperplasia Dorsocervical fat pad Moon facies Mood changes Unsteady gait Polyneuropathy Slender finger Spina bifida Abnormality of the hip bone Heart murmur Aortic aneurysm Intracranial hemorrhage Corneal dystrophy Aortic regurgitation Spina bifida occulta Joint contracture of the hand Single transverse palmar crease Insulin resistance Tall stature High myopia Decreased fetal movement Oligohydramnios Overgrowth Gastrointestinal hemorrhage Subdural hemorrhage


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