Hyperreflexia, and Atrial fibrillation

Diseases related with Hyperreflexia and Atrial fibrillation

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Atrial fibrillation that can help you solving undiagnosed cases.

Top matches:

Medium match FRIEDREICH ATAXIA

Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Low match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match DESMINOPATHY

Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.

DESMINOPATHY Is also known as desmin-related myofibrillar myopathy

Related symptoms:

  • Cardiomyopathy
  • Diarrhea
  • Arrhythmia
  • Constipation
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about DESMINOPATHY

Other less relevant matches:

Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Ptosis
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

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

Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as edmd3

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY

EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Top 5 symptoms//phenotypes associated to Hyperreflexia and Atrial fibrillation

Symptoms // Phenotype % cases
Dilated cardiomyopathy Very Common - Between 80% and 100% cases
Arrhythmia Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Atrial fibrillation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Elevated serum creatine phosphokinase

Uncommon Symptoms - Between 30% and 50% cases

Gait disturbance

Common Symptoms - More than 50% cases

Atrioventricular block

Uncommon Symptoms - Between 30% and 50% cases

Sudden cardiac death

Common Symptoms - More than 50% cases

Muscular dystrophy

Uncommon Symptoms - Between 30% and 50% cases

Ptosis

Common Symptoms - More than 50% cases

Hypertrophic cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases

Lower limb muscle weakness

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Proximal muscle weakness Intellectual disability Limb muscle weakness Skeletal muscle atrophy Ichthyosis Vertigo Reduced tendon reflexes Areflexia Palpitations Kyphosis Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Peripheral neuropathy Congestive heart failure Muscular hypotonia Elbow flexion contracture Dyspnea Heart block Flexion contracture Paresthesia Scapular winging Depressivity Respiratory insufficiency Dysphagia Dysarthria Limb-girdle muscular dystrophy Dystonia Facial palsy Rimmed vacuoles Spinal rigidity Hyporeflexia of lower limbs Joint stiffness Waddling gait Ventricular arrhythmia Bulbar palsy Proximal upper limb amyotrophy Seizures Absent muscle fiber emerin Decreased cervical spine flexion due to contractures of posterior cervical muscles Restricted neck movement due to contractures Cognitive impairment Anxiety Rhabdomyolysis Constipation Left ventricular hypertrophy Feeding difficulties Diarrhea Progressive muscle weakness Hepatomegaly Anemia Hypertriglyceridemia Involuntary movements Sprengel anomaly Proximal muscle weakness in lower limbs Pectus excavatum Hyperlordosis Achilles tendon contracture Limb-girdle muscle weakness Ankle contracture Diabetes mellitus Increased LDL cholesterol concentration Toe walking Myotonia Respiratory distress Lipodystrophy Back pain Generalized-onset seizure Pain Supraventricular arrhythmia Type 1 muscle fiber atrophy Obesity Ventricular escape rhythm Ventricular hypertrophy Chorea Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy

Rare Symptoms - Less than 30% cases

Memory impairment Distal lower limb amyotrophy Hypertension Proximal amyotrophy Vocal cord paralysis Right ventricular cardiomyopathy Peroneal muscle atrophy Rigidity Motor axonal neuropathy Cataract Mental deterioration Personality disorder Pelvic girdle muscle atrophy Failure to thrive Skeletal myopathy Growth delay Left bundle branch block Bradycardia Short stature Hirsutism Left anterior fascicular block Cardiac arrest Tics Acanthocytosis EMG abnormality Obsessive-compulsive behavior Myoclonus Dementia Dyskinesia Pelvic girdle muscle weakness Hallucinations Distal lower limb muscle weakness Hepatosplenomegaly Ventricular extrasystoles Ventriculomegaly Pneumonia Cerebral atrophy Splenomegaly Peroneal muscle weakness Hypertonia Confusion Restrictive heart failure Myalgia Late-onset proximal muscle weakness Short neck Ophthalmoplegia Behavioral abnormality Hearing impairment Global developmental delay Falls Abnormality of visual evoked potentials Neonatal hypotonia Visual field defect Glucose intolerance Sensory axonal neuropathy Neck muscle weakness Muscle stiffness Truncal ataxia Insulin resistance Clumsiness Sensory impairment Chest pain Abnormal cerebellum morphology Sensory neuropathy Tachycardia Generalized hypotonia Visual loss Ataxia Nystagmus Visual impairment Optic atrophy Fatigue Cerebellar atrophy Babinski sign Peripheral axonal neuropathy Pes cavus Cerebral cortical atrophy Gait ataxia Difficulty walking Abnormality of movement Dysmetria High palate Cachexia Difficulty climbing stairs Mildly elevated creatine phosphokinase Limb-girdle muscle atrophy Congenital muscular dystrophy Lumbar hyperlordosis Progressive proximal muscle weakness Centrally nucleated skeletal muscle fibers Ventricular tachycardia Gait imbalance Shoulder girdle muscle weakness Distal muscle weakness Personality changes Respiratory failure Shoulder girdle muscle atrophy Right bundle branch block Bundle branch block Generalized muscle weakness Myocardial infarction Syncope Proximal tubulopathy Morphological abnormality of the vestibule of the inner ear Writer's cramp Episodic quadriplegia Bilateral intracranial calcifications Abnormal levels of creatine kinase in blood Muscle fiber atrophy Psychomotor deterioration Morphological abnormality of the inner ear Retinal pigment epithelial atrophy Dysesthesia Abnormality of peripheral nerve conduction Episodic vomiting Prominent ear helix Abnormality of the renal tubule Hemianopia Ileus Motor polyneuropathy Cochlear malformation Persistence of primary teeth Crohn's disease Edema of the dorsum of hands Abnormal mitochondrial morphology Cardiomegaly Aspiration Progressive night blindness Abnormality of the musculature Aspiration pneumonia Paronychia Cochlear degeneration Spotty hypopigmentation Abnormal macular morphology Hemeralopia Abnormal mitochondrial shape Abnormality of the cerebellar vermis Leber optic atrophy Psychotic episodes Tubulointerstitial abnormality Abetalipoproteinemia Trifascicular block Phonic tics Paralytic ileus Abnormal cochlea morphology Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Homonymous hemianopia Abnormality of acid-base homeostasis Orofacial dyskinesia Exertional dyspnea Permanent atrial fibrillation Atrial arrhythmia Abnormal atrioventricular conduction Calf muscle hypertrophy Spinal muscular atrophy Knee flexion contracture Frequent falls Midface retrusion Wide nasal bridge Increased connective tissue Proximal spinal muscular atrophy Decreased HDL cholesterol concentration Progeroid facial appearance Restrictive ventilatory defect Generalized amyotrophy Diplopia Abnormal lung morphology Abnormal facial shape Micrognathia Pica Scapuloperoneal amyotrophy Cryptorchidism Sick sinus syndrome Glycosuria Postprandial hyperglycemia Spinal deformities Abnormal glucose tolerance Limb joint contracture Nemaline bodies Insulin-resistant diabetes mellitus Difficulty running Weak cry Multiple joint contractures Osteopenia Hyperglycemia Hyperinsulinemia Infantile muscular hypotonia Congenital hip dislocation Narrow face Decreased fetal movement Long face Muscular hypotonia of the trunk Joint laxity Third degree atrioventricular block Intestinal pseudo-obstruction Reduced ejection fraction Sleep apnea Bipolar affective disorder Insomnia Restlessness Impaired pain sensation Impaired vibration sensation in the lower limbs Bowel incontinence Ventricular fibrillation Emotional lability Sensorimotor neuropathy Left ventricular failure Neuronal loss in central nervous system Parkinsonism Hemolytic anemia Abnormality of the cerebral white matter Elevated hepatic transaminase Hyperhidrosis Weakness of facial musculature Tip-toe gait Sinus bradycardia Supraventricular tachycardia Excessive salivation Myofibrillar myopathy Abnormality of the astrocytes Restrictive cardiomyopathy Atrial flutter Hypokinesia Increased variability in muscle fiber diameter Tricuspid regurgitation Akinesia Dilatation Delayed speech and language development Hyporeflexia of upper limbs Increased muscle fatiguability Abnormal facial expression Blood group antigen abnormality Recurrent singultus Abnormal corpus striatum morphology Caudate atrophy Abnormal lactate dehydrogenase activity Abnormal social behavior Impaired temperature sensation Generalized limb muscle atrophy Speech apraxia Ophthalmoparesis Seborrheic dermatitis Structural foot deformity Vomiting Blindness Tremor Fever Motor delay Sensorineural hearing impairment Hypertelorism Microcephaly Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Abolished vibration sense Renal insufficiency Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Abnormality of the dentition Headache Cerebellar cortical atrophy Photophobia Attention deficit hyperactivity disorder Nyctalopia Abnormality of the liver Erythema Protruding ear Abnormality of the pinna Developmental regression Feeding difficulties in infancy Apnea Proteinuria EEG abnormality Jaundice Encephalopathy Gastroesophageal reflux Acidosis Hypothyroidism Autism Weight loss Abdominal pain Hypogonadism Osteoporosis Rod-cone dystrophy Cerebellar hypoplasia Delayed skeletal maturation Hyporeflexia Upper limb amyotrophy Concentric hypertrophic cardiomyopathy Neurological speech impairment Progressive cerebellar ataxia Dysdiadochokinesis Incoordination Slurred speech Spastic paraparesis Paraparesis Spastic gait Limb ataxia Lower limb spasticity Intention tremor Optic disc pallor Peripheral demyelination Neurodegeneration Hammertoe Inability to walk Unsteady gait Abnormality of eye movement Abnormality of the foot Abnormal pyramidal sign Pallor Pes planus Kyphoscoliosis Reduced visual acuity Hyperactivity Talipes equinovarus Spasticity Impaired vibratory sensation Decreased motor nerve conduction velocity Diabetic ketoacidosis Subvalvular aortic stenosis Decreased sensory nerve conduction velocity Reduced systolic function Hand muscle atrophy Sinus tachycardia Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Positive Romberg sign Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination T-wave inversion Asymmetric septal hypertrophy Hyperactive deep tendon reflexes Impaired proprioception Spinocerebellar tract degeneration Hyposmia Areflexia of lower limbs Myocardial fibrosis Increased reactive oxygen species production Ketoacidosis Urinary bladder sphincter dysfunction Ketosis Abnormal EKG Thoracic scoliosis Optic neuropathy Stroke Pruritus Stroke-like episode Overlapping toe Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Adrenal insufficiency Abnormality of neuronal migration Thyroiditis Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Hypercalciuria Hyperthyroidism Abnormality of immune system physiology Chronic kidney disease Delusions Anterior hypopituitarism Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Transient ischemic attack Primary adrenal insufficiency Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Xerostomia Vitiligo Neonatal hypoglycemia Hashimoto thyroiditis Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Decreased nerve conduction velocity Growth abnormality Generalized tonic-clonic seizures Coma Abnormality of the cardiovascular system Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Increased serum lactate Migraine Generalized myoclonic seizures Muscle cramps Postural instability Polyneuropathy Nephrotic syndrome Nephropathy Polymicrogyria Nausea Lactic acidosis Anal atresia Delayed puberty Malabsorption Nausea and vomiting Carious teeth Congenital cataract Arthrogryposis multiplex congenita Lethargy Bilateral sensorineural hearing impairment Type II diabetes mellitus Easy fatigability Exercise intolerance Hyperkinesis Goiter Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers External ophthalmoplegia Pancreatitis Macular degeneration Purpura Type I diabetes mellitus Pulmonary arterial hypertension Hypogonadotrophic hypogonadism Generalized hirsutism Clonus Cerebral visual impairment Abnormality of retinal pigmentation Gingival overgrowth Anorexia Decreased body weight Hypertrichosis Hemiparesis Psychosis Status epilepticus Type 1 fibers relatively smaller than type 2 fibers


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