Neuroblastoma, and Generalized muscle weakness

Diseases related with Neuroblastoma and Generalized muscle weakness

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


Top matches:

Medium match VESTIBULAR SCHWANNOMA


Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.

VESTIBULAR SCHWANNOMA Is also known as bilateral acoustic neurofibromatosis|acoustic neurilemoma|acoustic schwannomas, bilateral|banf|neurofibromatosis, central type|acoustic neurinoma|acn|acoustic neuroma|acoustic neurinoma, bilateral

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about VESTIBULAR SCHWANNOMA

Medium match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Low match INSULINOMA


Insulinoma is the most common type of functioning pancreatic neuroendocrine tumor (see this term) characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia.

Related symptoms:

  • Seizures
  • Tremor
  • Fatigue
  • Behavioral abnormality
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about INSULINOMA

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Other less relevant matches:

Low match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Low match LINEAR NEVUS SEBACEUS SYNDROME


Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

Low match TAY-SACHS DISEASE; TSD


Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.

TAY-SACHS DISEASE; TSD Is also known as b variant gm2-gangliosidosis|gm2-gangliosidosis, type i|hexosaminidase a deficiency|hexa deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about TAY-SACHS DISEASE; TSD

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4


MDDGB4 is a rare autosomal recessive congenital muscular dystrophy that is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies.' In contrast to most dystroglycanopathies, mental retardation is not a feature of MDDGB4 (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4 Is also known as muscular dystrophy, congenital, fktn-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Elevated serum creatine phosphokinase
  • Muscular dystrophy


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4

Low match HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES


Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES Is also known as hnpp|potato-grubbing palsy|polyneuropathy, familial recurrent|current pressure-sensitive neuropathy|heterozygous microdeletion 17p11.2p12|tulip-bulb digger's palsy|tomaculous neuropathy

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

Low match MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A


Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Motor delay
  • Dysphagia
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A

Low match X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY


X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.

X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY Is also known as xmea|vacuolar myopathy

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY

Top 5 symptoms//phenotypes associated to Neuroblastoma and Generalized muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Neuroblastoma and Generalized muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Ataxia Blindness Dysphagia Respiratory insufficiency Proximal muscle weakness Poor head control Fatigue Muscle cramps Hypertrophic cardiomyopathy Intellectual disability Respiratory failure Elevated serum creatine phosphokinase Cardiomyopathy Oral-pharyngeal dysphagia Behavioral abnormality Spasticity Easy fatigability Tremor Sensory neuropathy Pain Hearing impairment Paralysis Neonatal hypotonia Peripheral neuropathy Gait disturbance Ophthalmoplegia Myoclonus

Rare Symptoms - Less than 30% cases


Dementia Developmental regression Foot dorsiflexor weakness Acidosis Weight loss Areflexia Nonketotic hypoglycemia Short stature Arrhythmia Depressivity Congestive heart failure Diarrhea Vomiting Growth delay Ptosis Dystonia Hypertonia Telecanthus Progressive muscle weakness Ketonuria Skeletal muscle atrophy Ketosis Rhabdomyolysis Back pain Slurred speech Abnormality of the nervous system Paresthesia Ragged-red muscle fibers Exercise intolerance Leukodystrophy Pachygyria Respiratory tract infection Tetraparesis Increased serum lactate Tetraplegia Abnormality of vision Optic atrophy Confusion Lactic acidosis Limb muscle weakness Lethargy Dilated cardiomyopathy Pes cavus Coma Hyperreflexia Visual impairment Inability to walk Corneal opacity Axonal loss Visual loss Failure to thrive Headache Neurofibromas Muscular hypotonia Progressive hearing impairment Cataract Hepatomegaly Dysarthria Neoplasm Recurrent fractures Dandy-Walker malformation Cerebral calcification Nevus Constrictive median neuropathy Overgrowth Attention deficit hyperactivity disorder Hypopigmentation of the skin Iris coloboma Ichthyosis Talipes Facial asymmetry Coloboma Abnormality of the eye Low back pain Coarctation of aorta Precocious puberty Exotropia Abnormality of dental morphology Osteomalacia Biparietal narrowing Vocal cord paralysis Basal cell carcinoma Vertebral segmentation defect Prominent occiput Aplasia/Hypoplasia of the cerebellum Horseshoe kidney Melanocytic nevus Rickets Hemangioma Aplasia/Hypoplasia of the corpus callosum Reduced tendon reflexes Plagiocephaly Carcinoma Dilatation EEG abnormality Pigmentary retinopathy Left ventricular noncompaction Preeclampsia Leukoencephalopathy External ophthalmoplegia Congenital hip dislocation Mitral regurgitation Spastic tetraplegia Generalized myoclonic seizures Hemolytic-uremic syndrome Myelin tomacula Retinopathy Brachial plexus neuropathy Respiratory insufficiency due to muscle weakness Babinski sign Absent speech Pneumonia Paraganglioma Increased intramyocellular lipid droplets Osteopenia Ventriculomegaly Kyphoscoliosis Agenesis of corpus callosum Alopecia Irregular hyperpigmentation Abnormal myelination Microphthalmia Syndactyly Talipes equinovarus Progressive leukoencephalopathy Frontal bossing Stress/infection-induced lactic acidosis Vocal cord paresis Left ventricular systolic dysfunction Abnormal mitochondria in muscle tissue Segmental peripheral demyelination/remyelination Decreased activity of mitochondrial complex II Hodgkin lymphoma Personality changes Dilatation of the cerebral artery GM2-ganglioside accumulation Hallucinations Abnormal anterior horn cell morphology Cherry red spot of the macula Therapeutic abortion Involuntary movements Internuclear ophthalmoplegia Clumsiness Zebra bodies Fasciculations Choreoathetosis Psychosis Memory impairment Muscular dystrophy Urinary incontinence Abnormal cerebellum morphology Congenital muscular dystrophy Psychotic episodes Aspiration Falls Torsion dystonia Spinal muscular atrophy Apathy Muscle fibrillation Loss of speech Proximal amyotrophy Action tremor Incoordination Exaggerated startle response Decerebrate rigidity Psychomotor deterioration Hyperkinesis Paranoia Melanoma Mood changes Hypercholesterolemia EMG abnormality Muscle stiffness Neurodegeneration Scoliosis Genu recurvatum Asymmetric growth Hemimegalencephaly Cranial asymmetry Abnormality of dental color Abnormality of the voice Adenoma sebaceum Hammertoe Decreased motor nerve conduction velocity Axonal degeneration Nevus sebaceous Cavernous hemangioma Porencephalic cyst Hypophosphatemic rickets Hyperphosphaturia Hemihypertrophy Amyotrophic lateral sclerosis Gangrene Epidermal nevus Abnormality of toe Hyporeflexia Lymphoma Lower limb muscle weakness Abnormality of movement Pallor Polyneuropathy Irritability Mental deterioration Rigidity Rod-cone dystrophy Odontoma Peripheral demyelination Hypotelorism Cerebellar atrophy Hoarse voice Nevus sebaceus Linear nevus sebaceous Odontogenic neoplasm Cranial nerve paralysis Abnormality of finger Abnormality of branched chain family amino acid metabolism Flexion contracture Arthralgia Abnormality of the pinna Hyperlordosis Myalgia Elevated hepatic transaminase Hypoglycemia Difficulty walking Jaundice High forehead Abnormality of the cerebral white matter Dyspnea Gait ataxia Encephalopathy Edema Respiratory distress Macrocephaly Fever Depressed nasal bridge Abnormality of the liver Congenital cataract Abnormal facial shape Cardiomegaly Clonus Decreased liver function Wide anterior fontanel Anorexia Left ventricular hypertrophy Renal dysplasia Heterotopia Abnormality of the genital system Waddling gait Nausea and vomiting Aciduria Gliosis Renal cyst Metabolic acidosis Hepatic steatosis Pulmonary hypoplasia Nausea Joint hyperflexibility Feeding difficulties Strabismus Type I diabetes mellitus Sensorimotor neuropathy Posterior subcapsular cataract Subcapsular cataract Hamartoma Multiple cafe-au-lait spots Tinnitus Increased intracranial pressure Neoplasm of the skin Cafe-au-lait spot Abnormality of the retinal vasculature Subcutaneous nodule Progressive visual loss Migraine Vertigo Papule Facial palsy Reduced visual acuity Sensorineural hearing impairment Meningioma Astrocytoma Capsular cataract Vestibular Schwannoma Juvenile posterior subcapsular lenticular opacities Unilateral vestibular Schwannoma Occasional neurofibromas Peripheral Schwannoma Bilateral vestibular Schwannoma Mononeuropathy Retinal hamartoma Neuroma Decreased corneal sensation Dysgraphia Spinal cord tumor Pseudoepiphyses of the metacarpals Ependymoma Epiretinal membrane Cortical cataract Lisch nodules Neoplasm of the central nervous system Schwannoma Cardiac arrest Scapular winging Cognitive impairment Defective dehydrogenation of isovaleryl CoA and butyryl CoA Increased body weight Palpitations Anxiety Hyperhidrosis Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Fatigable weakness of neck muscles Polyphagia Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Increased muscle lipid content Hyperinsulinemia Insomnia Arthralgia of the hip Abnormal rapid eye movement sleep Nystagmus Microcephaly Abnormality of the pancreatic islet cells Abnormality of pain sensation Fluctuations in consciousness Neoplasm of the adrenal gland Transient global amnesia Reactive hypoglycemia Zollinger-Ellison syndrome Hearing abnormality Abnormality of higher mental function Fasting hyperinsulinemia Neuroendocrine neoplasm Pituitary prolactin cell adenoma Reduced consciousness/confusion Primary hyperparathyroidism Recurrent hypoglycemia Hyperinsulinemic hypoglycemia Glutaric acidemia Gastrointestinal inflammation Pancreatitis Glycosuria Excessive daytime somnolence Cardiorespiratory arrest Progressive proximal muscle weakness Myoglobinuria Drowsiness Fatigable weakness Acute kidney injury Difficulty climbing stairs Organic aciduria Restrictive ventilatory defect Ventricular fibrillation Stridor Hemiplegia Polycystic kidney dysplasia Mutism Hyperammonemia Spastic tetraparesis Chronic fatigue Hypoketotic hypoglycemia Narcolepsy Oliguria Cataplexy Renal cortical cysts Limb tremor Impaired mastication Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Generalized aminoaciduria Exercise-induced myalgia Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Autophagic vacuoles



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