Spasticity, and Syncope

Diseases related with Spasticity and Syncope

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


Top matches:

Low match DEMENTIA, LEWY BODY; DLB


Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; {168600}). Alzheimer disease (AD )-associated pathology and spongiform changes may also be seen (McKeith et al., 1996; Mizutani, 2000; McKeith et al., 2005).

DEMENTIA, LEWY BODY; DLB Is also known as lewy body dementia|diffuse lewy body disease

Related symptoms:

  • Cognitive impairment
  • Dysarthria
  • Depressivity
  • Pneumonia
  • Dementia


SOURCES: ORPHANET OMIM MENDELIAN

More info about DEMENTIA, LEWY BODY; DLB

Low match SCHEIE SYNDROME


Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

SCHEIE SYNDROME Is also known as mps v, formerly|mucopolysaccharidosis type 1s|mps5, formerly|mps1-s|mps1s|mucopolysaccharidosis type v, formerly|mpsis|mucopolysaccharidosis type is

Related symptoms:

  • Sensorineural hearing impairment
  • Visual impairment
  • Depressed nasal bridge
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHEIE SYNDROME

Low match AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY


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

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Other less relevant matches:

Low match HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1


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

Low match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Low match ATRIAL STANDSTILL 2; ATRST2


Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by Fazelifar et al., 2005).

ATRIAL STANDSTILL 2; ATRST2 Is also known as cardiomyopathy, atrial dilated, with atrial standstill|atrial dilation and standstill

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Dyspnea
  • Scarring
  • Stroke


SOURCES: OMIM MENDELIAN

More info about ATRIAL STANDSTILL 2; ATRST2

Low match DOPAMINE BETA-HYDROXYLASE DEFICIENCY


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

Low match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Low match AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B


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

Low match MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE


Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).

MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE Is also known as msa-p|msa, parkinsonian type

Related symptoms:

  • Dysarthria
  • Depressivity
  • Constipation
  • Gait ataxia
  • Rigidity


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE

Top 5 symptoms//phenotypes associated to Spasticity and Syncope

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
Cyanosis Uncommon - Between 30% and 50% cases
Dementia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Multiple myeloma Dyspnea Exertional dyspnea Spastic paraparesis Scoliosis Fatigue Arrhythmia Diarrhea Corneal opacity Abnormality of eye movement Supranuclear gaze palsy Parkinsonism Congestive heart failure Myoclonus Hepatomegaly Abnormal pyramidal sign Abnormal autonomic nervous system physiology Rigidity Splenomegaly

Rare Symptoms - Less than 30% cases


Recurrent respiratory infections Delayed skeletal maturation Osteoporosis Cognitive impairment Abdominal pain Osteopenia Hepatosplenomegaly Delayed puberty Lymphadenopathy Cirrhosis Hematuria Proteinuria Strabismus Thrombocytopenia Kyphosis Myopia Anemia Abdominal distention Failure to thrive Growth delay Ataxia Short stature Palpitations Respiratory insufficiency Muscle weakness Intermittent hypothermia Hypothermia Orthostatic hypotension Ascites Bone pain Abnormal bleeding Decreased beta-glucocerebrosidase protein and activity Abnormal myocardium morphology Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Generalized osteosclerosis Spontaneous hematomas Orthopnea Erlenmeyer flask deformity of the femurs Hematological neoplasm Hepatocellular carcinoma Cardiac valve calcification Horizontal supranuclear gaze palsy Bradycardia Atrial arrhythmia Vomiting Gait disturbance Difficulty walking Progressive cerebellar ataxia Vertebral compression fractures Aseptic necrosis Generalized myoclonic seizures Leukopenia Pancytopenia Pulmonary arterial hypertension Dysarthria Progressive neurologic deterioration Decreased body weight Increased bone mineral density Osteolysis Oculomotor apraxia Increased susceptibility to fractures Interstitial pulmonary abnormality Cholelithiasis Portal hypertension Abnormality of the thorax Clubbing Menorrhagia Increased antibody level in blood Petechiae Pericardial effusion Hypotension Epistaxis Bradykinesia Constipation Stridor Intellectual disability Pain Ptosis Feeding difficulties Motor delay Hypertonia Mental deterioration Dystonia Ophthalmoplegia Apraxia Muscle stiffness Hypoglycemia Hypoalbuminemia Generalized tonic-clonic seizures Malabsorption Tachycardia Stroke Scarring Neurodegeneration Cardiomyopathy Pneumonia Intention tremor Hydrops fetalis Lymphopenia Pulmonary fibrosis Pallor Opisthotonus Restrictive ventilatory defect Abnormal retinal morphology Lower limb hyperreflexia Abnormality of the sternum Bulbar palsy Abnormal heart valve morphology Thoracic kyphosis Slow saccadic eye movements Hypercoagulability Restrictive deficit on pulmonary function testing Protein-losing enteropathy Gliosis Tetraplegia Aggressive behavior Atrial standstill Epiphora Dilatation of the ventricular cavity Hyperpepsinogenemia I Atrial cardiomyopathy Muscular hypotonia High palate Hypertension Peripheral neuropathy Confusion Myalgia Abnormality of the nervous system Vertigo Dehydration Falls Dyskinesia Blurred vision Amyloidosis Neonatal hypoglycemia Recurrent hypoglycemia Nocturia Retrograde ejaculation Nystagmus Tremor Abnormal thrombosis Dysphagia Hydrocephalus Edema Encephalopathy Astrocytosis Lethargy Aortic valve calcification Frequent falls Abnormal atrioventricular conduction Abnormal echocardiogram Sick sinus syndrome Proximal lower limb amyotrophy Proximal muscle weakness in upper limbs Limb-girdle muscle atrophy Paroxysmal supraventricular tachycardia Fatiguable weakness of proximal limb muscles Pelvic girdle amyotrophy Abnormal muscle fiber lamin A/C Gait ataxia Anxiety Postural instability Apathy Achilles tendon contracture Postural tremor Gaze-evoked nystagmus Resting tremor Raynaud phenomenon Orofacial dyskinesia Axial dystonia Orthostatic hypotension due to autonomic dysfunction Abnormal brain FDG positron emission tomography Central sleep apnea Autonomic bladder dysfunction Abnormal rapid eye movement sleep Camptocormia Orthostatic syncope Autonomic erectile dysfunction Pelvic girdle muscle weakness Limb-girdle muscle weakness Abnormal saccadic eye movements Dilated cardiomyopathy Mitral valve calcification Abnormality of ion homeostasis Memory impairment Sleep myoclonus Flexion contracture Wide nasal bridge Skeletal muscle atrophy Midface retrusion Elevated serum creatine phosphokinase Neonatal hypotonia Proximal muscle weakness Hyperlordosis Muscular dystrophy Sudden cardiac death Ankle contracture Waddling gait Ventricular hypertrophy Atrial fibrillation Left ventricular hypertrophy Elbow flexion contracture Knee flexion contracture Ventricular tachycardia EMG: myopathic abnormalities Atrioventricular block Lipodystrophy Limb-girdle muscular dystrophy Calf muscle hypertrophy Difficulty climbing stairs Difficulty running Abnormality of the acoustic reflex Hallucinations Neuronal loss in central nervous system Urinary glycosaminoglycan excretion Scleroderma Renal tubular acidosis Hyperaldosteronism Periodic paralysis Distal renal tubular acidosis Episodic flaccid weakness Periodic hyperkalemic paralysis Primary hyperaldosteronism Hypoplasia of the corpus callosum Hyperreflexia Tricuspid atresia Cervical cord compression Abnormal nerve conduction velocity Hypokalemia Mucopolysacchariduria Abnormality of peripheral nerve conduction Constrictive median neuropathy Spondylolisthesis Broad face Mitral stenosis Dysostosis multiplex Spinal cord compression EEG abnormality Arthritis Obstructive sleep apnea Abnormality of the eye Neurological speech impairment Myotonia Generalized muscle weakness Abnormality of skin pigmentation Hypokinesia Sleep disturbance Chorea Feeding difficulties in infancy Muscular hypotonia of the trunk Choreoathetosis Abnormality of the face Leukodystrophy Cardiac arrest Drooling Hyperkinesis Emotional lability Athetosis Agitation Gastroesophageal reflux Paralysis Limb dystonia Insomnia Limb hypertonia Hyperhidrosis Miosis Nasal obstruction Temperature instability Decreased CSF homovanillic acid Vitreomacular adhesion Babinski sign Cerebral atrophy Myopathy Acidosis Rhinitis Sleep apnea Puberty and gonadal disorders Neurofibrillary tangles Sensorineural hearing impairment Fluctuations in consciousness Pathologic fracture Vertical supranuclear gaze palsy Senile plaques Protuberant abdomen Gingival bleeding Visual hallucinations Bipolar affective disorder Increased serum ferritin Edema of the lower limbs Lewy bodies Delusions Loss of consciousness Abnormality of coagulation Alzheimer disease Paraparesis Periorbital edema Esodeviation Hypersplenism Fractures of the long bones Abnormality of bone marrow cell morphology Flank pain Arthralgia of the hip Abnormal platelet function Irritability Vascular calcification Biliary tract obstruction Visual impairment Depressed nasal bridge Bruising susceptibility Hepatic fibrosis Cerebral palsy Aortic regurgitation Situs inversus totalis Aortic valve stenosis Limitation of joint mobility Abnormality of the cardiovascular system Full cheeks Everted lower lip vermilion Thick vermilion border Wide nose Osteoarthritis Retinal degeneration Anorexia Genu valgum Osteomyelitis Wide mouth Meningitis Joint stiffness Apnea Coarse facial features Reduced bone mineral density Skeletal dysplasia Mandibular prognathia Glaucoma Pes cavus Short neck Leukocytosis Abnormality of the skeletal system Female anorgasmia



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