Myopathy, and Attention deficit hyperactivity disorder

Diseases related with Myopathy and Attention deficit hyperactivity disorder

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

Top matches:

Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Other less relevant matches:

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOREOACANTHOCYTOSIS

High match CADASIL

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

CADASIL Is also known as dementia, hereditary multi-infarct type|cadasil|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|casil|hereditary multi-infarct dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CADASIL

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd|duchenne muscular dystrophy|severe dystrophinopathy, duchenne type|muscular dystrophy, pseudohypertrophic progressive, duchenne type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DUCHENNE MUSCULAR DYSTROPHY

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.

SCHWARTZ-JAMPEL SYNDROME Is also known as myotonic chondrodystrophy|schwartz-jampel-aberfeld syndrome|burton skeletal dysplasia|sjs|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|dysostosis enchondralis metaepiphysaria, catel-hempel type|burton syndrome|aberfeld syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Top 5 symptoms//phenotypes associated to Myopathy and Attention deficit hyperactivity disorder

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Myopathy and Attention deficit hyperactivity disorder. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Elevated serum creatine phosphokinase

Uncommon Symptoms - Between 30% and 50% cases

Hyporeflexia

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Cognitive impairment Strabismus Skeletal muscle atrophy Short stature Delayed speech and language development Hyperactivity Behavioral abnormality Scoliosis Microcephaly Pain Muscular hypotonia Ataxia Hip dysplasia Growth delay Vomiting Feeding difficulties Gait disturbance Hypertension Proximal muscle weakness Muscular dystrophy Ventriculomegaly Congestive heart failure Inguinal hernia Stroke Narrow mouth Kyphosis Cataract Talipes equinovarus Dysarthria High palate Myopia Tremor Intrauterine growth retardation Generalized tonic-clonic seizures Micrognathia Myotonia Specific learning disability Respiratory tract infection Psychosis Abnormality of the eye Cerebral atrophy Cerebral cortical atrophy EEG abnormality Hyperlordosis Recurrent respiratory infections Intellectual disability, severe Cardiomyopathy Intellectual disability, mild Infantile muscular hypotonia Fever Fatigue Waddling gait Pallor Gowers sign

Rare Symptoms - Less than 30% cases

Short neck Abnormality of eye movement Abnormality of the nervous system Aggressive behavior Mental deterioration Developmental regression Neurological speech impairment Limb muscle weakness Sensory neuropathy Abnormality of the pinna Sleep disturbance Memory impairment Long philtrum EMG abnormality Personality changes Polyhydramnios Anxiety Pectus excavatum Visual impairment Muscle fiber atrophy Abnormality of movement Inability to walk Chorea Truncal ataxia Limb-girdle muscular dystrophy Adrenal insufficiency Nystagmus Weight loss Peripheral neuropathy Dysphagia Micropenis Depressivity Areflexia Dementia Subcortical dementia Hypertonia Pectus carinatum Abnormal facial shape Chromosome breakage Arachnodactyly Hypertelorism Failure to thrive Joint stiffness Facial palsy Cleft palate Abnormality of the urinary system Cryptorchidism Ptosis Arthrogryposis multiplex congenita Neonatal hypotonia Epicanthus Blepharophimosis Hypoventilation Mask-like facies Hypoglycemia Osteoporosis Skeletal muscle hypertrophy Peripheral demyelination Carious teeth Impaired pain sensation Genu valgum Apnea Flexion contracture Dilated cardiomyopathy Respiratory insufficiency Falls Dilatation Arrhythmia Respiratory failure Decreased muscle mass Poor speech Full cheeks Migraine Photophobia Progressive proximal muscle weakness Hepatomegaly Headache Diarrhea Autism Hearing impairment Dystonia Constipation Umbilical hernia Ascites Encephalopathy Spasticity Splenomegaly Nausea and vomiting Ventricular septal defect Syndactyly Abdominal pain Nausea Gastrointestinal dysmotility Congenital muscular dystrophy Elevated hepatic transaminase Myalgia Exercise intolerance Vertigo Pulmonary arterial hypertension Abnormality of the upper urinary tract Restlessness Distal arthrogryposis Colpocephaly Aplasia/Hypoplasia involving the skeletal musculature Inferior vermis hypoplasia Zollinger-Ellison syndrome Limb joint contracture Abnormality of the penis Abnormality of the cerebellar vermis Hypothermia Generalized hypopigmentation Congenital ptosis Primitive reflex Cor pulmonale Abdominal obesity Epispadias Poor fine motor coordination Ocular albinism Low-set, posteriorly rotated ears Fixed facial expression Flat face Nephrolithiasis Decreased body weight Bowing of the long bones Abnormality of the metaphysis Abnormality of the ribs Decreased testicular size Dental malocclusion Overweight Microcornea Everted lower lip vermilion Micromelia Abnormal anatomic location of the heart Oligomenorrhea Platyspondyly Prominent nasal bridge Irritability Feeding difficulties in infancy Acrocyanosis Absent septum pellucidum Pes planus Skeletal dysplasia Hypoplasia of the fovea Delayed skeletal maturation Submucous cleft hard palate Bicuspid aortic valve Abnormality of the sternum Narrow palm High, narrow palate Pulmonary hypoplasia Disseminated intravascular coagulation Talipes Triangular mouth Temperature instability Central adrenal insufficiency Hypoplastic labia minora Psychotic episodes Hypopnea Renal agenesis Camptodactyly of finger Almond-shaped palpebral fissure Postnatal growth retardation Camptodactyly Abnormality of the kidney Hydronephrosis Retrognathia Kyphoscoliosis Poor gross motor coordination Bifid uvula Dandy-Walker malformation Anteverted ears Increased bone mineral density Clitoral hypoplasia Hydroureter Dextrocardia Metatarsus adductus Frontal upsweep of hair Hypoplasia of the brainstem Congenital contracture Radioulnar synostosis Pyloric stenosis Renal hypoplasia/aplasia Interphalangeal joint contracture of finger Multicystic kidney dysplasia Joint contracture of the hand Erysipelas Situs inversus totalis Wide anterior fontanel Abnormality of the face Renal dysplasia Abnormal form of the vertebral bodies Short palpebral fissure Renal hypoplasia Abnormality of epiphysis morphology Dysphonia Low anterior hairline Inflammation of the large intestine Radial deviation of finger Tapered finger Short foot Emotional lability Small hand Downturned corners of mouth Short palm Large hands Polymicrogyria Infertility Delayed puberty Precocious puberty Hypermetropia Glucose intolerance Pruritus Albinism Dolichocephaly Leukemia Thin upper lip vermilion Osteopenia Truncal obesity Diabetes mellitus External genital hypoplasia Hyperinsulinemia Failure to thrive in infancy Upslanted palpebral fissure Type II diabetes mellitus Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Increased body weight Aortic valve stenosis Bradycardia Insulin resistance Clumsiness Primary amenorrhea Scrotal hypoplasia Cutaneous photosensitivity Poor suck Hypopigmentation of the skin Decreased fetal movement Oligohydramnios Narrow forehead Abnormality of the cardiovascular system Amenorrhea Nasal speech Febrile seizures Growth hormone deficiency Esotropia Gastrointestinal hemorrhage Sepsis Hypogonadism Prominent forehead Generalized hirsutism Spinal rigidity Abnormal eyebrow morphology Malignant hyperthermia Pulmonary embolism Sprengel anomaly Hypopigmentation of hair Abnormality of the ureter Hip contracture Iris hypopigmentation Abnormality of immune system physiology Increased number of teeth High pitched voice Striae distensae Abnormality of lipid metabolism Overfolded helix Elbow dislocation Ectopia lentis Central hypotonia Cachexia Sleep apnea Laryngomalacia Coxa vara Wormian bones Coxa valga Blepharospasm Trismus Polyphagia Testicular torsion Clinodactyly Obesity Short nose Narrow nasal bridge Abnormality of the dentition Edema Myeloid leukemia Neoplasm Abnormally straight spine Long eyelashes in irregular rows Elevated aldolase level Odontogenic neoplasm Aplasia/Hypoplasia affecting the eye Shoulder flexion contracture Pursed lips Prenatal movement abnormality Metatarsus valgus Protrusio acetabuli Abnormally ossified vertebrae Flexion contracture of toe Weak voice Wrist flexion contracture Distichiasis Abnormality of the pharynx Depressed nasal bridge Abnormal EKG Posteriorly rotated ears Intellectual disability, borderline Abnormality of the foot Malabsorption Mitral valve prolapse Hypertrophic cardiomyopathy Hepatosplenomegaly Pes cavus Frequent falls Exophoria Cerebral white matter atrophy Abnormal levels of creatine kinase in blood Right ventricular dilatation Dyskinesia Alacrima Recurrent ear infections Speech apraxia Achalasia Esophagitis Restrictive ventilatory defect Athetosis Impulsivity CNS hypomyelination Scapular winging Lower limb spasticity Lymphadenopathy Neurodegeneration Generalized-onset seizure Protruding tongue Difficulty in tongue movements Abetalipoproteinemia Mood changes Abnormal urinary color Dysgraphia Disinhibition Orofacial dyskinesia Tics Acanthocytosis Acute hepatic failure Self-mutilation Abnormality of the thyroid gland Generalized muscle weakness Generalized amyotrophy Self-injurious behavior Abnormality of vision Drooling Vasculitis Involuntary movements Progressive neurologic deterioration Neuronal loss in central nervous system Gliosis Parkinsonism Abnormal bleeding Apraxia Focal-onset seizure Distal upper limb muscle weakness Ventricular hypertrophy Oligodactyly Aplasia cutis congenita Spastic diplegia Abnormality of the coagulation cascade Cutis marmorata Portal hypertension Patent foramen ovale Ischemic stroke Hyperammonemia Small nail Coarctation of aorta Dystrophic toenail Hepatic failure Pulmonic stenosis Abnormality of the cerebral white matter Severe global developmental delay Abnormal cardiac septum morphology Lethargy Abnormal heart morphology Hernia Brachydactyly Abnormality of mitochondrial metabolism Abnormal autonomic nervous system physiology Right ventricular hypertrophy Calcinosis Muscle cramps Cerebellar atrophy Hepatic steatosis Unsteady gait Congenital cataract Abnormality of the liver Mildly elevated creatine phosphokinase Difficulty walking Hyperkeratosis Difficulty standing Brachycephaly Absent speech Mitochondrial depletion Hyperhidrosis Prominent superficial veins Right atrial enlargement Calcinosis cutis Chronic hepatic failure Cutis marmorata telangiectatica congenita Prominent scalp veins Portal vein thrombosis Hypersplenism Cavernous hemangioma Aplasia cutis congenita of scalp Right ventricular failure Esophageal varix Abnormal erythrocyte morphology Caudate atrophy Severe short stature Chest pain Difficulty running Exertional dyspnea Difficulty climbing stairs Abnormality of color vision Calf muscle hypertrophy Toe walking Hypokalemia Ventricular arrhythmia Progressive muscle weakness Sudden cardiac death Macroglossia Myoglobinuria Distal amyotrophy Cough Nyctalopia Distal muscle weakness Scarring Ichthyosis Dyspnea Pneumonia Blindness Subdural hemorrhage Scintillating scotoma Anorexia Male pseudohermaphroditism Recurrent subcortical infarcts Red-green dyschromatopsia Agenesis of corpus callosum Cerebellar hypoplasia Hypospadias Abnormality of cardiovascular system morphology Microphthalmia Atrial septal defect Hydrocephalus Hypoplasia of the corpus callosum Anteverted nares Low-set ears Absent muscle dystrophin expression Nocturnal hypoventilation Limb-girdle muscle weakness Hemiatrophy Proximal lower limb amyotrophy Calf muscle pseudohypertrophy Muscle fiber necrosis Gastroparesis Shoulder girdle muscle atrophy Proximal muscle weakness in lower limbs Intestinal pseudo-obstruction Breech presentation Congenital stationary night blindness Shoulder girdle muscle weakness Nonarteritic anterior ischemic optic neuropathy Abulia Phonic tics Confusion Recurrent pneumonia Hemiparesis Myocardial infarction Tetraparesis Abnormality of extrapyramidal motor function Bradykinesia Abnormality of the skin Urinary incontinence Brain atrophy Tetraplegia Coma Dysmetria Atherosclerosis Lower limb muscle weakness Babinski sign Visual loss Hyperreflexia Sensorineural hearing impairment Self-mutilation of tongue and lips due to involuntary movements Square-wave jerks Progressive choreoathetosis Progressive distal muscular atrophy Hair-pulling Abnormality of urine homeostasis Spastic tetraparesis Shock Retinal arteriolar tortuosity Varicose veins Focal sensory seizure Diffuse leukoencephalopathy Amaurosis fugax Subcutaneous hemorrhage Mania Perseveration Pseudobulbar paralysis Abnormality of nervous system morphology Migraine with aura Stroke-like episode Cerebral ischemia Transient ischemic attack Cranial nerve paralysis Abnormality of visual evoked potentials Optic neuropathy Amyloidosis Bulbar palsy Scotoma Aphasia Cerebral hemorrhage Apathy Hemiplegia Abnormal electroretinogram Leukoencephalopathy Acromicria


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