Motor delay, and Myocardial infarction

Diseases related with Motor delay and Myocardial infarction

In the following list you will find some of the most common rare diseases related to Motor delay and Myocardial infarction that can help you solving undiagnosed cases.

Top matches:

Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

High match SNEDDON SYNDROME

Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Other less relevant matches:

Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY Is also known as methylenetetrahydrofolate reductase deficiency|mthfr deficiency|methylene tetrahydrofolate reductase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.

PERIVENTRICULAR NODULAR HETEROTOPIA Is also known as heterotopia, periventricular, ehlers-danlos variant|periventricular nodular heterotopia 4, formerly|heterotopia, familial nodular|heterotopia, periventricular, x-linked dominant|pvnh4, formerly|nhbp|nodular heterotopia, bilateral periventricular|bpnh

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA

Medium match CRANIOPHARYNGIOMA

Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about CRANIOPHARYNGIOMA

Medium 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

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Top 5 symptoms//phenotypes associated to Motor delay and Myocardial infarction

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Motor delay and Myocardial infarction. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Gait disturbance Behavioral abnormality Peripheral neuropathy Delayed speech and language development Encephalopathy Hypertelorism Hearing impairment Vertigo Stroke Dysarthria Confusion Congestive heart failure Myopathy Strabismus Dilatation Mental deterioration Facial palsy Ataxia Headache Coma Muscular hypotonia Hypertension Constipation Pain Hypertrophic cardiomyopathy Hemiparesis Failure to thrive Intellectual disability, severe Cerebral ischemia Generalized hypotonia Limb muscle weakness Growth delay Arrhythmia Elevated serum creatine phosphokinase Intellectual disability, mild Vomiting

Rare Symptoms - Less than 30% cases

Abnormality of the eye Abnormality of extrapyramidal motor function Psychosis Macrotia EEG abnormality High forehead Joint hypermobility Long face Sparse hair Gastroesophageal reflux Paresthesia Cerebral cortical atrophy Hallucinations Alopecia Diarrhea Sensory neuropathy Clinodactyly of the 5th finger Inguinal hernia Depressivity Cerebral atrophy Malar flattening Short nose Hypertonia Cardiomyopathy Hydrocephalus Sleep disturbance Sleep apnea Intestinal malrotation Abnormal myocardium morphology Aplasia/Hypoplasia of the eyebrow Hypogonadism Fatigue Aortic aneurysm Micropenis Recurrent infections Heart block Hypoglycemia Bulbar palsy Microcephaly Spasticity Proximal muscle weakness Lower limb muscle weakness Attention deficit hyperactivity disorder Dilated cardiomyopathy Hypothyroidism Delayed puberty Dental malocclusion Poor suck Babinski sign Hyperreflexia Cognitive impairment Sensorineural hearing impairment Fine hair Lethargy Hyperextensible skin Nausea Redundant skin Hypogonadotrophic hypogonadism Sparse eyebrow Respiratory failure Frontal bossing Dyspnea Amenorrhea Dysphagia Hypotrichosis Downslanted palpebral fissures Myalgia Arterial stenosis Transient ischemic attack Aphasia Heart murmur Personality changes Hemiplegia Optic atrophy Memory impairment Migraine Developmental regression Dementia Neoplasm Tremor Visual impairment Neck muscle weakness Spinal rigidity Respiratory insufficiency due to muscle weakness Joint hyperflexibility Muscular dystrophy Respiratory insufficiency Feeding difficulties Flexion contracture Amaurosis fugax Respiratory distress Myopia Cataract High palate Cryptorchidism Macrocephaly Short palpebral fissure Lissencephaly Heterotopia Mitral regurgitation Nephrotic syndrome Generalized-onset seizure Focal-onset seizure Skeletal dysplasia Aortic root aneurysm Agenesis of corpus callosum Cerebellar hypoplasia Flat occiput Patent ductus arteriosus Bicuspid aortic valve Syndactyly Wide nasal bridge Abnormal facial shape Hypoplasia of the uterus Restrictive heart failure Pica Late-onset proximal muscle weakness Third degree atrioventricular block Sick sinus syndrome Intestinal pseudo-obstruction Aortic regurgitation Abnormality of neuronal migration Patent foramen ovale Hyperlipidemia Purpura Hypotension Telangiectasia of the skin Femoral hernia Nausea and vomiting Postnatal growth retardation Anxiety Keratoconus Avascular necrosis of the capital femoral epiphysis Prematurely aged appearance Obesity Myocarditis Premature ovarian insufficiency Subependymal nodules Congenital nephrotic syndrome Dyslexia Widow's peak Enlarged cisterna magna Shawl scrotum Cortical dysplasia Emphysema Hyporeflexia of lower limbs Abnormality of the coagulation cascade Right ventricular cardiomyopathy Myofibrillar myopathy Autoimmune thrombocytopenia Tachycardia Ventricular hypertrophy Syncope Chest pain Anodontia Decreased serum testosterone level Decreased serum estradiol Sudden cardiac death Abnormal T-wave Generalized muscle weakness Abnormal spermatogenesis Increased thyroid-stimulating hormone level Palpitations Streak ovary Decreased serum insulin-like growth factor 1 Hiatus hernia Distal muscle weakness Joint stiffness Progressive extrapyramidal movement disorder Hypoplasia of the fallopian tube Cardiorespiratory arrest Pneumonia Aortic dissection Esophagitis Atrial fibrillation Progressive muscle weakness Skeletal myopathy Difficulty climbing stairs Type II diabetes mellitus Restrictive cardiomyopathy Atrial flutter Ventricular extrasystoles Progressive proximal muscle weakness Insulin-resistant diabetes mellitus Centrally nucleated skeletal muscle fibers Rimmed vacuoles Pulmonary artery stenosis Hypokinesia Mildly elevated creatine phosphokinase Muscle stiffness Right bundle branch block Bundle branch block Increased variability in muscle fiber diameter Tricuspid regurgitation Akinesia Limb-girdle muscular dystrophy Atrioventricular block EMG: myopathic abnormalities Ventricular tachycardia Scapular winging Elbow flexion contracture Cerebral calcification Hypergonadotropic hypogonadism Increased body weight Cerebral hemorrhage Abnormality of nervous system morphology Prominent nasal bridge Migraine with aura Stroke-like episode Varicose veins Abnormality of visual evoked potentials Optic neuropathy Impaired pain sensation Amyloidosis Scotoma Apathy Perseveration Hyperhomocystinemia Abnormal electroretinogram Leukoencephalopathy Cranial nerve paralysis Shock Atherosclerosis Spastic tetraparesis Recurrent pneumonia Arthrogryposis multiplex congenita Abnormality of movement Truncal ataxia Pseudobulbar paralysis Mania Polyneuropathy Scintillating scotoma Specific learning disability Abnormal carotid artery morphology Abnormality of the zygomatic bone Hip dysplasia Arachnodactyly Hip dislocation Dystonia Blepharophimosis Craniosynostosis Subdural hemorrhage Abnormality of metabolism/homeostasis Subcutaneous hemorrhage Diabetes mellitus Thin skin Nonarteritic anterior ischemic optic neuropathy Recurrent subcortical infarcts Abulia Camptodactyly Subcortical dementia Retinal arteriolar tortuosity Focal sensory seizure Diffuse leukoencephalopathy Protruding ear Tetraparesis Cardiac arrest Keratoglobus Pyloric stenosis Progressive visual field defects Enlarged pituitary gland Slow decrease in visual acuity Bitemporal hemianopia Sudden loss of visual acuity Central adrenal insufficiency Central diabetes insipidus Pituitary hypothyroidism Excessive daytime somnolence Prolactin excess Papilledema Abnormal visual field test Proportionate short stature Hypopituitarism Orthostatic hypotension Polyphagia Impotence Sparse scalp hair Diabetes insipidus Rocker bottom foot Increased susceptibility to fractures Increased intracranial pressure Choreoathetosis Craniopharyngioma Intracranial cystic lesion Bradykinesia Coxa valga Peripheral demyelination Abnormality of the skin Triangular face Urinary incontinence Brain atrophy Tetraplegia Prominent nose Inability to walk Dysmetria Decreased testicular size Abnormality of eye movement Generalized tonic-clonic seizures Neoplasm of the anterior pituitary Pallor Dehydration Visual loss Fever Coxa vara Long palm Bilateral sensorineural hearing impairment Median cleft lip and palate Abnormality of the frontal bone Abnormality of the nasal bone Abnormal hypothalamus morphology Primary amenorrhea Hyperextensibility of the finger joints Homocystinuria Abnormality of the kidney Dolichocephaly Nail dystrophy Pruritus Neurological speech impairment Leukemia Pectus carinatum Abnormal cardiac septum morphology Scarring Erythema Respiratory tract infection Irritability Feeding difficulties in infancy Low-set, posteriorly rotated ears Hypermetropia Telecanthus Aggressive behavior Hydronephrosis Umbilical hernia Coarse facial features Osteopenia Polyhydramnios Proptosis Autism Hyperkeratosis Hyperhidrosis Prominent forehead Abnormality of the cerebral white matter Pulmonic stenosis Delayed skeletal maturation Abnormal bleeding Low posterior hairline Coarctation of aorta Cardiomegaly Narrow forehead Abnormality of the cardiovascular system Progressive visual loss Growth hormone deficiency Webbed neck Premature birth Vesicoureteral reflux Nevus Full cheeks Abdominal distention Genu valgum Palmoplantar keratoderma High, narrow palate Hepatic steatosis Thick vermilion border Retinal dystrophy Bruising susceptibility Bulbous nose Falls Abnormality of skin pigmentation Peripheral axonal neuropathy Ichthyosis Dry skin Astigmatism Posteriorly rotated ears Abnormal heart morphology Open mouth Generalized amyotrophy Thrombocytosis Atrophic scars Visual field defect Cutis marmorata Intracranial hemorrhage Systemic lupus erythematosus Vasculitis Chorea Nephropathy Paralysis Axial muscle weakness Limb-girdle muscle weakness Congenital muscular dystrophy Arteriovenous malformation Cachexia Poor head control Severe muscular hypotonia EMG abnormality Decreased fetal movement Limitation of joint mobility Talipes Abnormality of the foot Narrow chest Hyperlordosis Talipes equinovarus Skeletal muscle atrophy Acrocyanosis Peripheral arterial stenosis Pectus excavatum Ventriculomegaly Hernia Thrombocytopenia Abnormality of cardiovascular system morphology Long philtrum Kyphosis Splenomegaly Abnormality of the dentition Blindness Edema Atrial septal defect Short neck Anteverted nares Ventricular septal defect Facial paralysis Hepatomegaly Epicanthus Depressed nasal bridge Low-set ears Ptosis Micrognathia Nystagmus Short stature Lupus anticoagulant Antiphospholipid antibody positivity Vascular skin abnormality Thromboembolic stroke Hemianopia Inflammatory abnormality of the skin Decreased body weight Delusions Abnormality of the pulmonary artery Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Abnormal aortic valve morphology Hypoplasia of the frontal lobes Subvalvular aortic stenosis Thickened helices Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Optic nerve dysplasia Generalized ichthyosis Woolly hair Hypoplasia of the corpus callosum Thromboembolism Coronary artery atherosclerosis Incoordination Paraparesis Progressive neurologic deterioration Hypsarrhythmia Epileptic encephalopathy Waddling gait Severe global developmental delay Apnea Abnormality of the nervous system Hyperactivity Oral aversion Laryngeal cleft Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Thick upper lip vermilion Short attention span Thickened skin Delayed gross motor development Melanocytic nevus Ectropion Pleural effusion Scaling skin Bilateral ptosis Failure to thrive in infancy Brittle hair Deep philtrum Relative macrocephaly Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Abnormality of the genitourinary system Chronic otitis media Hemangioma Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Cutis laxa Oculomotor apraxia Sparse eyelashes Narrow palate Abnormality of the nail Aspiration Cerebral visual impairment Hyperpigmentation of the skin Lymphedema Cafe-au-lait spot Cubitus valgus Obsessive-compulsive behavior Abnormality of the gastrointestinal tract Submucous cleft hard palate Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Anal stenosis Generalized hyperpigmentation Absent eyebrow Curly hair Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Neurofibromas Neurodevelopmental delay Hydroureter Malnutrition Open bite Large for gestational age Progressive alopecia


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