Myopathy, and Anorexia

Diseases related with Myopathy and Anorexia

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

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

Other less relevant matches:

Medium 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

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized clinically by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Muscle weakness
  • Feeding difficulties
  • Respiratory insufficiency
  • Myopathy
  • Neonatal hypotonia


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C

Linear and whorled hypermelanosis (LWNH) is a benign skin condition characterized by onset in infancy of hyperpigmented regions composed of small light brown spots that coalesce with age and follow the lines of Blaschko on the trunk and limbs. The soles, palms, face, and mucous membranes are spared. The lesions are asymptomatic and progress with age; affected individuals have no accompanying extradermal features. There is no previous history of inflammation on affected areas (summary by Kalter et al., 1988).

BECKER NEVUS SYNDROME Is also known as pigmentary hairy epidermal nevus

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Kyphosis
  • Pectus excavatum
  • Autism


SOURCES: OMIM ORPHANET MENDELIAN

More info about BECKER NEVUS SYNDROME

Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).

PARAMYOTONIA CONGENITA OF VON EULENBURG Is also known as paramyotonia congenita

Related symptoms:

  • Feeding difficulties
  • Dysphagia
  • Neonatal hypotonia
  • Myalgia
  • Muscle stiffness


SOURCES: ORPHANET MENDELIAN

More info about PARAMYOTONIA CONGENITA OF VON EULENBURG

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 acetylcholine receptor 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 ).

MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL; CMS4A Is also known as cms1a1, formerly|cms ia1, formerly|congenital myasthenic syndrome type ia1, formerly

Related symptoms:

  • Generalized hypotonia
  • Strabismus
  • Muscle weakness
  • Ptosis
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL; CMS4A

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Feeding difficulties
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about SUDDEN CARDIAC FAILURE, INFANTILE; SCFI

Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Feeding difficulties
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 10; NEM10

Top 5 symptoms//phenotypes associated to Myopathy and Anorexia

Symptoms // Phenotype % cases
Feeding difficulties Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopathy and Anorexia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Respiratory insufficiency Vomiting Dysphagia Dilated cardiomyopathy Hypertrophic cardiomyopathy Congestive heart failure Failure to thrive Nausea Intellectual disability Pain Muscular hypotonia Elevated serum creatine phosphokinase Coma Hepatomegaly Arrhythmia Strabismus Cardiac arrest Fatigue Easy fatigability Fever Abnormality of the liver Ataxia Acidosis Lactic acidosis Metabolic acidosis Jaundice Respiratory distress Exercise intolerance Nausea and vomiting Diarrhea Headache Abdominal pain Autism Rhabdomyolysis Lethargy Photophobia Motor delay Myalgia

Rare Symptoms - Less than 30% cases

Dyspnea Abnormality of the renal tubule Arthrogryposis multiplex congenita Ophthalmoplegia Reye syndrome-like episodes Ptosis Ophthalmoparesis Encephalopathy Weight loss Tremor Gait ataxia Respiratory failure Depressivity Abnormality of acid-base homeostasis Areflexia Cataract Gait disturbance Episodic vomiting Abnormality of the pinna Ragged-red muscle fibers Skeletal muscle atrophy Cardiorespiratory arrest Drowsiness Fatigable weakness Kyphosis Hemiplegia Proximal tubulopathy Neonatal hypotonia Mutism Pancreatitis Congenital cataract Gastrointestinal inflammation Type I diabetes mellitus Clonus Left ventricular hypertrophy Increased serum lactate Generalized muscle weakness Feeding difficulties in infancy Muscle cramps Limb muscle weakness Elevated plasma acylcarnitine levels Dysarthria Bilateral ptosis Nemaline bodies Abnormality of retinal pigmentation Growth delay Pigmentary retinopathy Cognitive impairment Behavioral abnormality Hypertension Polyneuropathy Hepatic steatosis Peripheral axonal neuropathy Microcephaly Nyctalopia Attention deficit hyperactivity disorder Elevated hepatic transaminase Vertigo Migraine Hypoglycemia Abnormality of mitochondrial metabolism Visual loss Macrocephaly Decreased liver function Hypopigmentation of the skin Peripheral neuropathy Reduced consciousness/confusion Hearing impairment Multiple lipomas Bulbar palsy Hypoketotic hypoglycemia Respiratory insufficiency due to muscle weakness Left ventricular failure Heart block Speech apraxia Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Truncal ataxia Retinal pigment epithelial atrophy Hashimoto thyroiditis Abnormality of peripheral nerve conduction Ileus Atopic dermatitis Hemianopia EMG abnormality Hypoparathyroidism Tubulointerstitial nephritis Seborrheic dermatitis Facial diplegia Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Cerebral ischemia Renal tubular dysfunction Aortic dissection Delusions Cerebral visual impairment Gait imbalance Transient ischemic attack Hallucinations Anterior hypopituitarism Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Stroke-like episode Thyroiditis Distal arthrogryposis Chronic kidney disease Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Ischemic stroke Hypopigmented skin patches Schizophrenia Goiter Hyperkinesis Growth abnormality Mask-like facies Atrioventricular block External ophthalmoplegia Dysesthesia Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Cachexia Hyponatremia Decreased nerve conduction velocity Aortic aneurysm Reduced tendon reflexes Abnormality of neuronal migration Pulmonary embolism Vertebral fusion Generalized hirsutism Hypogonadotrophic hypogonadism Primary adrenal insufficiency Abnormality of immune system physiology Hypercalciuria Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Prolonged QT interval Overlapping toe Visual field defect Hyperkalemia Purpura Dysphasia Vestibular dysfunction Macular degeneration Aphasia Bundle branch block Adrenal insufficiency Motor polyneuropathy Eosinophilia Psychomotor deterioration EMG: myopathic abnormalities Myotonia of the face Paradoxical myotonia Cold paresis Neonatal inspiratory stridor Handgrip myotonia Periodic hypokalemic paresis Percussion myotonia Myotonia Muscle stiffness Myotonia of the upper limb Hyperpigmented streaks Abnormality of the scrotum Aplasia/Hypoplasia of the breasts Hypoplastic labia minora Upper limb asymmetry Reticular hyperpigmentation Shoulder girdle muscle atrophy Supernumerary ribs Gastritis Cold-sensitive myotonia Abnormality of potassium homeostasis Abnormality of tibia morphology Otitis media Severe muscular hypotonia Decreased fetal movement Premature birth Facial palsy Polyhydramnios Flexion contracture Myocardial fibrosis Myocarditis Bradycardia Generalized hypotonia due to defect at the neuromuscular junction Facial muscle hypertrophy Apneic episodes precipitated by illness, fatigue, stress Sudden episodic apnea Decreased miniature endplate potentials EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Type 2 muscle fiber atrophy Weak cry Poor suck Progressive muscle weakness Myotonia of the jaw Rib fusion Lower limb asymmetry Muscle fiber atrophy Psychotic episodes Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Tubulointerstitial abnormality Progressive night blindness Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Cochlear malformation Cochlear degeneration Woolly hair Pectus carinatum Hamartoma Lipoatrophy Hypermelanotic macule Supernumerary nipple Acne Decreased body weight Spina bifida occulta Nevus Micromelia Pectus excavatum Abnormal mitochondrial shape Scoliosis Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Gingival overgrowth Myoclonus Involuntary movements Scapular winging Ventricular fibrillation Stridor Back pain Polycystic kidney dysplasia Slurred speech Poor head control Hyperammonemia Spastic tetraparesis Leukodystrophy Difficulty climbing stairs Wide anterior fontanel Renal dysplasia Heterotopia Pachygyria Abnormality of the genital system Tetraparesis Cardiomegaly Waddling gait Aciduria Restrictive ventilatory defect Glycosuria Tetraplegia Loss of ability to walk Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Respiratory arrest Acute pancreatitis Abnormal corpus callosum morphology Acute kidney injury Medulloblastoma Exercise-induced myalgia Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Progressive proximal muscle weakness Ketosis Myoglobinuria Gliosis Renal cyst Impaired mastication Peripheral demyelination Preeclampsia Chorioretinal atrophy Loss of consciousness Abnormal electroretinogram Tachypnea Hypocalcemia Sensorimotor neuropathy Exotropia Brain atrophy Cholestatic liver disease Retinal dystrophy Hepatic failure Retinopathy Abnormality of metabolism/homeostasis Myopia Gastrointestinal dysmotility Abnormal autonomic nervous system physiology Pallor Hyperhidrosis Recurrent hypoglycemia Decreased plasma carnitine Pulmonary hypoplasia High forehead Joint hyperflexibility Abnormality of the cerebral white matter Respiratory tract infection Hyperlordosis Telecanthus Proximal muscle weakness Difficulty walking Arthralgia Edema Abnormal left ventricle morphology Depressed nasal bridge Spasticity Abnormal facial shape 3-hydroxydicarboxylic aciduria Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Posterior staphyloma Acute hepatic steatosis Abnormal chorioretinal morphology Hepatic encephalopathy Nonketotic hypoglycemia Limb tremor Hypertrichosis Carious teeth Polymicrogyria Ichthyosis Confusion Paresthesia Dysmetria Anal atresia Delayed puberty Malabsorption Generalized tonic-clonic seizures Nephropathy Pruritus Neurological speech impairment Stroke Erythema Protruding ear Developmental regression Mental deterioration Apnea Proteinuria Hirsutism Postural instability EEG abnormality Bilateral sensorineural hearing impairment Hemiparesis Atrial fibrillation Ventricular hypertrophy Psychosis Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Nephrotic syndrome Generalized-onset seizure Abnormal cerebellum morphology Abnormality of the cardiovascular system Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Memory impairment Sensory impairment Sudden cardiac death Generalized myoclonic seizures Anxiety Gastroesophageal reflux Renal cortical cysts Fatigable weakness of neck muscles Nystagmus Hypertelorism Short stature Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of distal limb muscles Anemia Hypersarcosinemia Ethylmalonic aciduria Reduced protein C activity Ketotic hypoglycemia Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Narcolepsy Cataplexy Sensorineural hearing impairment Visual impairment Hypothyroidism Hyporeflexia Cerebral cortical atrophy Diabetes mellitus Hypogonadism Osteoporosis Dementia Rod-cone dystrophy Cerebellar hypoplasia Constipation Delayed skeletal maturation Cerebral atrophy Hyperreflexia Renal insufficiency Dystonia Hypertonia Abnormality of the dentition Cerebellar atrophy Blindness Short neck Ventriculomegaly Optic atrophy Increased connective tissue


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