Generalized hypotonia, and Syncope

Diseases related with Generalized hypotonia and Syncope

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Syncope that can help you solving undiagnosed cases.

Top matches:

There are 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, that are distinguished by the changes in serum potassium levels during paralytic attacks. In contrast to HYPP, myotonia is usually not present in HOKPP (Jurkat-Rott et al., 2000). Hypokalemic periodic paralysis may also occur as a rare complication of thyrotoxicosis (see TTPP1, {188580}), a disorder with a high frequency in individuals of Asian descent (Kung, 2006).

HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1 Is also known as hypokalemic periodic paralysis|hokpp

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Respiratory insufficiency
  • Myopathy
  • Acidosis


SOURCES: OMIM MENDELIAN

More info about HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1

Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.

DOPAMINE BETA-HYDROXYLASE DEFICIENCY Is also known as norepinephrine deficiency|noradrenaline deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain
  • Ptosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOPAMINE BETA-HYDROXYLASE DEFICIENCY

Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B Is also known as lgmd1b|limb-girdle muscular dystrophy due to lamin a/c deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B

Other less relevant matches:

Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY Is also known as ddc deficiency|aadc deficiency|dopa decarboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pain
  • Ptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

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

Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability (ID). Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (OMIM ) (summary by Tenorio et al., 2014).

TENORIO SYNDROME; TNORS Is also known as overgrowth, macrocephaly, and intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about TENORIO SYNDROME; TNORS

Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Medium match TIMOTHY SYNDROME

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy|cpeo with myopathy|oculocraniosomatic syndrome|ophthalmoplegia, progressive external, with ragged-red fibers|cpeo with ragged-red fibers|chronic progressive external ophthalmoplegia wi

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEARNS-SAYRE SYNDROME

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Syncope

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Hypoglycemia Uncommon - Between 30% and 50% cases
Atrioventricular block Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Syncope. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Muscular hypotonia Gastroesophageal reflux Flexion contracture Muscle weakness Myopathy Intellectual disability Feeding difficulties Wide nasal bridge Skeletal muscle atrophy Gait disturbance Midface retrusion Neonatal hypotonia Elevated serum creatine phosphokinase Hypothermia Muscular dystrophy Dilated cardiomyopathy Sudden cardiac death Congestive heart failure Bradycardia Elbow flexion contracture Knee flexion contracture Cardiac arrest Myoclonus Fatigue Motor delay Ventricular arrhythmia Global developmental delay Respiratory insufficiency Dysphagia Encephalopathy Vertigo Pain High palate

Rare Symptoms - Less than 30% cases

Overgrowth Cyanosis Abnormal facial shape Cognitive impairment Hypokinesia Athetosis Depressivity Abnormality of the face Lethargy Abnormality of eye movement Cardiomyopathy Irritability Feeding difficulties in infancy Hypothyroidism Hypocalcemia Constipation Dystonia Hypertonia Diarrhea Cardiomegaly Limb hypertonia Kyphosis Microcephaly Hyporeflexia Osteopenia Pneumonia Short stature Heart block Hypertelorism Reduced tendon reflexes Ventricular septal defect Hypertrophic cardiomyopathy Hypomagnesemia Abnormal cardiac septum morphology Apnea Bilateral ptosis Joint hypermobility Patent foramen ovale Rigidity Ophthalmoplegia Dyspnea Pectus excavatum Dementia Delayed skeletal maturation Ataxia Limb muscle weakness Pulmonary arterial hypertension Ventricular tachycardia Calf muscle hypertrophy Ankle contracture Renal tubular acidosis Exertional dyspnea Difficulty climbing stairs Hyperaldosteronism Hyperlordosis Left ventricular hypertrophy Vomiting Limb-girdle muscular dystrophy Hypotension Lipodystrophy Palpitations Peripheral neuropathy Intermittent hypothermia Orthostatic hypotension Limb-girdle muscle weakness Abnormal autonomic nervous system physiology Achilles tendon contracture Acidosis Paralysis Limb-girdle muscle atrophy Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Waddling gait Ventricular hypertrophy Atrial fibrillation Atrial arrhythmia Proximal muscle weakness Abnormal atrioventricular conduction Difficulty walking Multiple myeloma Myotonia EMG: myopathic abnormalities Ophthalmoparesis Leukoencephalopathy Abnormality of mitochondrial metabolism Nasal speech Incoordination Ragged-red muscle fibers External ophthalmoplegia EMG abnormality Abnormality of retinal pigmentation Cerebral calcification Laryngeal stridor Pigmentary retinopathy Memory impairment Orthopnea Hemiplegia/hemiparesis Hypoxemia Adrenal insufficiency Spontaneous hematomas First degree atrioventricular block Sideroblastic anemia Muscle fiber atrophy Titubation Abnormality of the mitochondrion Subcutaneous hemorrhage Anterior hypopituitarism Stroke-like episode Gait imbalance Severe lactic acidosis Bundle branch block Mitochondrial myopathy Intestinal bleeding Increased CSF protein Hypoparathyroidism Muscle cramps Progressive external ophthalmoplegia Exocrine pancreatic insufficiency Primary adrenal insufficiency Basal ganglia calcification Giant cell hepatitis Growth hormone deficiency Optic atrophy Sensory neuropathy Slowed horizontal saccades Biventricular hypertrophy Cutaneous syndactyly of toes Torsade de pointes Cardiac valve calcification Perimembranous ventricular septal defect Amelogenesis imperfecta Protruding tongue Cutaneous finger syndactyly Bronchitis Abnormality of dental color Mixed hearing impairment Prolonged QT interval Multiple joint contractures 2-3 toe syndactyly Ventricular fibrillation Obsessive-compulsive behavior Optic nerve hypoplasia Cutaneous syndactyly Abnormality of dental enamel Frontal balding T-wave alternans Lactic acidosis Rod-cone dystrophy CSF pleocytosis Nyctalopia Retinopathy Reduced visual acuity Diabetes mellitus Hypogonadism Erlenmeyer flask deformity of the femurs Severe short stature Cerebellar hypoplasia Atrioventricular dissociation Decreased beta-glucocerebrosidase protein and activity Blindness Folate deficiency Sensorineural hearing impairment Nystagmus Hematological neoplasm Hearing impairment Abnormal platelet aggregation Abnormal direction of ventricular apex Renal Fanconi syndrome Intrauterine growth retardation Adrenocorticotropin deficient adrenal insufficiency Cholelithiasis Heart murmur Akinesia Clubbing Hyponatremia Ectropion Histiocytosis Abnormality of the thorax Portal hypertension Intracranial hemorrhage Poor suck Opisthotonus Hyperammonemia Leukopenia Oculomotor apraxia Purpura Sinusitis Hyperbilirubinemia Abnormal pattern of respiration Aspiration Bone pain Menorrhagia Abnormality of coagulation Hydrops fetalis Fetal akinesia sequence Congenital nonbullous ichthyosiform erythroderma Supranuclear gaze palsy Nonimmune hydrops fetalis Abnormality of the spleen Slow saccadic eye movements Avascular necrosis of the capital femoral epiphysis Trismus Bulbar signs Restrictive deficit on pulmonary function testing Aspiration pneumonia Petechiae Generalized osteosclerosis Increased serum ferritin Hepatocellular carcinoma Epileptic spasms Protuberant abdomen Atrophy/Degeneration affecting the brainstem Poor eye contact Congenital ichthyosiform erythroderma Bulbar palsy Interstitial pulmonary abnormality Progressive microcephaly Anorexia Third degree atrioventricular block Abnormality of the larynx Polyhydramnios Abdominal pain Recurrent respiratory infections Thrombocytopenia Splenomegaly Hemophagocytosis Edema Respiratory distress Axial dystonia Fever Jaundice Hepatomegaly Anemia Spasticity Abducens palsy Strabismus Failure to thrive Low CSF 5-methyltetrahydrofolate Progressive intervertebral space narrowing Second degree atrioventricular block Umbilical hernia Hepatosplenomegaly Thickened skin Abnormal bleeding Decreased body weight Cholestasis Eclabion Progressive neurologic deterioration Epistaxis Pancytopenia Decreased fetal movement Abnormality of the skin Brain atrophy Generalized myoclonic seizures Elevated hepatic transaminase Ascites Pulmonary hypoplasia Hepatic failure Cirrhosis Nausea Lymphadenopathy Corneal opacity Cough Pallor Developmental regression Osteolysis Exotropia Hypoplasia of dental enamel Progressive muscle weakness Rimmed vacuoles Spinal rigidity Mildly elevated creatine phosphokinase Toe walking Congenital muscular dystrophy Spinal muscular atrophy Back pain Respiratory insufficiency due to muscle weakness Scapular winging Frequent falls Progressive proximal muscle weakness Hypertriglyceridemia Myocardial infarction Falls Ichthyosis Lower limb muscle weakness Joint stiffness Facial palsy Pes cavus Obesity Sprengel anomaly Vocal cord paralysis Decreased CSF homovanillic acid Ventricular escape rhythm Macrocephaly Delayed speech and language development Absent muscle fiber emerin Restricted neck movement due to contractures Decreased cervical spine flexion due to contractures of posterior cervical muscles Proximal spinal muscular atrophy Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Scapuloperoneal amyotrophy Peroneal muscle weakness Proximal amyotrophy Left anterior fascicular block Peroneal muscle atrophy Shoulder girdle muscle atrophy Increased LDL cholesterol concentration Supraventricular arrhythmia Proximal muscle weakness in lower limbs Distal lower limb muscle weakness Shoulder girdle muscle weakness Distal lower limb amyotrophy Vitreomacular adhesion Temperature instability Anteverted nares Abnormality of the nervous system Difficulty running Retrograde ejaculation Nocturia Recurrent hypoglycemia Neonatal hypoglycemia Amyloidosis Blurred vision Epiphora Dehydration Myalgia Abnormal echocardiogram Hypertension Primary hyperaldosteronism Periodic hyperkalemic paralysis Episodic flaccid weakness Distal renal tubular acidosis Periodic paralysis Scleroderma Hypokalemia Generalized muscle weakness Pelvic girdle muscle weakness Sick sinus syndrome Nasal obstruction Choreoathetosis Miosis Insomnia Limb dystonia Agitation Emotional lability Hyperkinesis Drooling Muscle stiffness Leukodystrophy Chorea Paroxysmal supraventricular tachycardia Sleep disturbance Muscular hypotonia of the trunk Hyperhidrosis Babinski sign Cerebral atrophy Hypoplasia of the corpus callosum Hyperreflexia Abnormal muscle fiber lamin A/C Pelvic girdle amyotrophy Fatiguable weakness of proximal limb muscles Ventriculomegaly Hydrocephalus Tetralogy of Fallot Aortic dissection Cervical spine instability Bilateral coxa valga Arterial dissection Ascending aortic dissection Arterial tortuosity Graves disease Cleft soft palate Spondylolisthesis Broad face Hiatus hernia Low-set ears Soft skin Aortic root aneurysm Long palpebral fissure Celiac disease Abnormality of the sternum Reduced subcutaneous adipose tissue Decreased muscle mass Cerebral hemorrhage Ectopia lentis Increased arm span Depressed nasal bridge Joint contracture of the hand Thin upper lip vermilion Microdontia Esotropia Round face Hypoplasia of the maxilla Coma Toe syndactyly Carious teeth Hip dislocation Autistic behavior Autism Myopia Prominent forehead Abnormal heart morphology Patent ductus arteriosus Abnormality of cardiovascular system morphology Recurrent infections Immunodeficiency Syndactyly Behavioral abnormality Abnormality of the dentition Aortic regurgitation Tall stature Intellectual disability, mild Cerebral palsy Cavum septum pellucidum Recurrent aphthous stomatitis Stomatitis Large forehead Hemihypertrophy Raynaud phenomenon Keratoconjunctivitis sicca Delayed cranial suture closure Keratitis Conjunctivitis Growth delay Clumsiness Hypertrichosis Macroglossia Wide nose Thick eyebrow Telecanthus Anxiety Mandibular prognathia Cerebral cortical atrophy Hypoinsulinemia Cleft palate Mitral regurgitation Dolichocephaly Osteoarthritis Blue sclerae Mitral valve prolapse Bifid uvula Bruising susceptibility Long face Arachnodactyly Smooth philtrum Arthrogryposis multiplex congenita Small for gestational age Downslanted palpebral fissures Pectus carinatum Pes planus Retrognathia Kyphoscoliosis Proptosis Brachycephaly Inguinal hernia Hernia Dilatation Talipes equinovarus EEG with temporal sharp waves


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