Myopathy, and Cyanosis

Diseases related with Myopathy and Cyanosis

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

Top matches:

Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.

CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME Is also known as mpcd

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Ptosis
  • High palate
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

Other less relevant matches:

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME Is also known as deafness, sensorineural, with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|pituitary hormone deficiency, combined, with rigid cervical spine

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 Is also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency|ceroid lipofuscinosis, neuronal, cathepsin d-deficient

Related symptoms:

  • Seizures
  • Microcephaly
  • Ataxia
  • Spasticity
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Top 5 symptoms//phenotypes associated to Myopathy and Cyanosis

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Respiratory distress Common - Between 50% and 80% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Ptosis Seizures Respiratory failure Skeletal muscle atrophy Low-set ears Abnormal facial shape Respiratory insufficiency Intellectual disability Growth delay Congestive heart failure Hypoglycemia Edema Ataxia Short neck Feeding difficulties in infancy Sensorineural hearing impairment Global developmental delay Bradycardia Macrocephaly Joint laxity Motor delay Muscle weakness Polyhydramnios Areflexia High palate Proximal muscle weakness Kyphoscoliosis Metabolic acidosis Hypertrophic cardiomyopathy Acidosis

Rare Symptoms - Less than 30% cases

Kyphosis Talipes equinovarus Dysphagia Delayed speech and language development Downslanted palpebral fissures Cryptorchidism Joint hypermobility Hypertelorism Nystagmus Hyporeflexia Microcephaly Recurrent respiratory infections Spasticity Cerebellar atrophy Peripheral neuropathy Hyperreflexia Hepatic steatosis Lethargy Pectus carinatum Arthrogryposis multiplex congenita Encephalopathy Ophthalmoplegia Vomiting Fatigue Gastroesophageal reflux Coma Generalized muscle weakness Esotropia Decreased fetal movement Poor suck Gliosis Weak cry Apnea Mental deterioration Cerebral atrophy Hearing impairment Micropenis Short stature Shoulder girdle muscle weakness Webbed neck Hydrops fetalis Pneumonia Atrial septal defect Optic atrophy Strabismus Type 1 muscle fiber predominance Easy fatigability Hepatomegaly EMG: myopathic abnormalities Nemaline bodies Diplopia Abnormality of eye movement Facial palsy Scoliosis Increased serum lactate Lactic acidosis Micrognathia Necrotizing encephalopathy Exercise intolerance Cardiomegaly Biventricular hypertrophy Ascites Myalgia Abnormal muscle morphology Cubitus valgus Type 1 and type 2 muscle fiber minicore regions Abnormality of the thorax Inguinal hernia Postnatal growth retardation Frog-leg posture Cognitive impairment Depressed nasal bridge Hypertension Epicanthus Pleural effusion Pectus excavatum Sternocleidomastoid amyotrophy Pulmonic stenosis Tibialis atrophy Macrotia Hepatosplenomegaly Minicore myopathy Type 1 muscle fiber atrophy Internally nucleated skeletal muscle fibers Muscle fiber hypertrophy Proximal placement of thumb Low-set, posteriorly rotated ears Failure to thrive in infancy High forehead Overfolded helix Prominent forehead Posteriorly rotated ears Decreased muscle mass Rectus femoris muscle atrophy Bilateral ptosis Deep philtrum Cholelithiasis Lymphoma Hip dysplasia Broad forehead Thrombocytopenia Leukemia Hypermetropia Wide intermamillary distance Abnormal bleeding Low posterior hairline Triangular face Highly arched eyebrow Thick vermilion border Bruising susceptibility Falls Astigmatism Epistaxis Abnormality of cardiovascular system morphology Abnormality of the foot Frontal bossing Gait disturbance Bicuspid aortic valve Torticollis Vasculitis Bilateral single transverse palmar creases Aortic valve stenosis Anteverted nares Long philtrum Sparse hair Lymphedema Cafe-au-lait spot Hyperpigmentation of the skin Mitral regurgitation Fine hair Splenomegaly Anemia Neurodevelopmental delay Cardiac arrest Global brain atrophy Adrenal insufficiency Oral-pharyngeal dysphagia Incoordination Ragged-red muscle fibers Leukoencephalopathy Shock Pancreatitis Horizontal nystagmus Aspiration Progressive spasticity Leukodystrophy Wide anterior fontanel Left ventricular hypertrophy Ventricular hypertrophy Coarctation of aorta Congenital diaphragmatic hernia Optic disc pallor Pigmentary retinopathy Febrile seizures Migraine Pericardial effusion Poor eye contact Brain atrophy Acute pancreatitis Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Progressive macrocephaly Cardiogenic shock Macrovesicular hepatic steatosis Infantile encephalopathy Axial dystonia Decreased activity of mitochondrial respiratory chain Stiff neck Cerebral edema Basal ganglia calcification Severe lactic acidosis Corpus callosum atrophy Wolff-Parkinson-White syndrome Increased CSF lactate Aspiration pneumonia Cardiorespiratory arrest Mitochondrial myopathy Progressive encephalopathy Optic neuropathy Renal tubular acidosis Premature birth Generalized myoclonic seizures Abnormal eyebrow morphology Arteritis Visual impairment Generalized limb muscle atrophy Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Pulmonary lymphangiectasia Blindness Monocytosis Broad toe Prominent fingertip pads Chylothorax Hypochromic microcytic anemia Abnormality of the spleen B-cell lymphoma Short attention span Hydrocele testis Facial hypotonia Intrauterine growth retardation Dystonia Progressive cerebellar ataxia Retinopathy Abnormal cerebellum morphology Dyskinesia Hepatic failure Stage 5 chronic kidney disease Talipes Abnormality of movement Limb muscle weakness Severe global developmental delay Stroke Abnormal pyramidal sign Abnormality of the liver Renal insufficiency Pallor Irritability Developmental regression Abnormality of the eye Muscular hypotonia of the trunk Myoclonus Agenesis of corpus callosum Babinski sign Patent ductus arteriosus Hernia Functional respiratory abnormality Episodic respiratory distress Muscle fiber necrosis Prolactin deficiency Intellectual disability, severe Tremor Wide nasal bridge Hypothalamic luteinizing hormone-releasing hormone deficiency Lumbar kyphosis Pituitary dwarfism Thoracolumbar kyphoscoliosis Abnormal anterior horn cell morphology Anterior pituitary hypoplasia Visual loss Gonadotropin deficiency Adrenocorticotropic hormone deficiency Panhypopituitarism Pituitary hypothyroidism Thoracic kyphosis Hypopituitarism Hyperextensible skin Increased body weight Abnormality of metabolism/homeostasis Rod-cone dystrophy Growth hormone deficiency Sensory axonal neuropathy Dilatation Ventriculomegaly Premature closure of fontanelles Increased neuronal autofluorescent lipopigment Intracellular accumulation of autofluorescent lipopigment storage material Central apnea Loss of speech Retinal atrophy Intellectual disability, progressive Dementia Postnatal microcephaly Status epilepticus Sloping forehead Generalized-onset seizure Neuronal loss in central nervous system Nevus Peripheral axonal neuropathy Rigidity Small nail Carious teeth Alopecia Drowsiness Weakness of long finger extensor muscles Weakness of the intrinsic hand muscles Orthopnea EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Thoracic kyphoscoliosis Reduced vital capacity Neck flexor weakness Upper limb muscle weakness Exertional dyspnea Decreased miniature endplate potentials Restrictive ventilatory defect Ophthalmoparesis Delayed gross motor development Reduced tendon reflexes Low-output congestive heart failure Abnormal mitochondrial shape Abnormality of the mitochondrion Severe muscular hypotonia Ankle weakness Decreased size of nerve terminals Hyperlordosis Enlarged kidney Jaundice Skeletal dysplasia Severe short stature Abnormality of the skeletal system Shortened PR interval Pulmonary edema Sinus bradycardia Myoglobinuria Neonatal hypoglycemia Triceps weakness Heart murmur Hypotension Macroglossia Abnormality of the musculature of the upper limbs Abnormality of masticatory muscle Fatigable weakness of neck muscles Hip flexor weakness Fatigable weakness of respiratory muscles Depressivity Elevated hepatic transaminase Increased nuchal translucency Neonatal hypotonia Narrow face Aciduria Single transverse palmar crease Pulmonary hypoplasia Dolichocephaly Muscular dystrophy Prominent nasal bridge Respiratory tract infection Clinodactyly Scrotal hypoplasia Flexion contracture Cleft palate Acetylcholine receptor antibody positivity EMG: impaired neuromuscular transmission Frontalis muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Choking episodes External ophthalmoplegia Tented upper lip vermilion Nasal regurgitation Distal arthrogryposis 3-Methylglutaconic aciduria Axial muscle weakness Increased connective tissue Exercise-induced myalgia Fetal akinesia sequence Facial diplegia Bell-shaped thorax Severe postnatal growth retardation Difficulty running Pterygium Centrally nucleated skeletal muscle fibers Cystic hygroma Myopathic facies Increased variability in muscle fiber diameter Bilateral cryptorchidism Mask-like facies Congenital muscular dystrophy Akinesia Apneic episodes precipitated by illness, fatigue, stress Sudden episodic apnea Dehydration Hyperglycinuria Distal amyotrophy Long face Difficulty walking Pes cavus Acute hyperammonemia Propionyl-CoA carboxylase deficiency Encephalomalacia Neutrophilia Decreased plasma carnitine Congenital hip dislocation Seborrheic dermatitis Organic aciduria Ketonuria Ketoacidosis Hypoventilation Opisthotonus Hyperammonemia Progressive neurologic deterioration Waddling gait Microretrognathia Staring gaze Obstructive sleep apnea EEG with polyspike wave complexes Central sleep apnea Spinal deformities Respiratory arrest Muscle fiber atrophy Motor polyneuropathy Distal lower limb muscle weakness Limb-girdle muscle weakness Central hypotonia Poor head control Neck muscle weakness Fatigable weakness Spinal rigidity Bulbar palsy Toe walking Stridor Nasal speech Dysphonia Exercise-induced lactic acidemia


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