Microcephaly, and Myalgia

Diseases related with Microcephaly and Myalgia

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


Top matches:

Medium match CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY


Congenital muscular dystrophy without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.

CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY Is also known as cmd without intellectual disability|cmd-no mr|congenital muscular dystrophy-dystroglycanopathy without intellectual disability

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Motor delay
  • Ventriculomegaly


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K


Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K Is also known as muscular dystrophy, limb-girdle, type 2k|muscular dystrophy, limb-girdle, autosomal recessive 11|lgmd2k|limb-girdle muscular dystrophy-intellectual disability syndrome|lgmdr11

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

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

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5


MDDGB5 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5 Is also known as muscular dystrophy, congenital, fkrp-related|mdc1c|muscular dystrophy, congenital, 1c

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S


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

Medium match DK1-CDG


DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

Medium match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Medium match SCHWARTZ-JAMPEL 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

Medium match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

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

Medium match ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY


Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.

ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY Is also known as ampd1 deficiency|amp deaminase deficiency|myoadenylate deaminase deficiency, myopathy due to|adenosine monophosphate deaminase-1 deficiency, myopathy due to|myoadenylate deaminase deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Skeletal muscle atrophy
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Microcephaly and Myalgia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Microcephaly and Myalgia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Short stature Muscle cramps Myopathy Seizures Cataract Difficulty walking Neonatal hypotonia Constipation Motor delay Fatigue Attention deficit hyperactivity disorder Cerebellar atrophy Hypertelorism Hepatomegaly Pain Strabismus Failure to thrive Growth delay Feeding difficulties in infancy Ataxia Easy fatigability Hyporeflexia Ptosis Depressivity Gait disturbance Hyperlordosis Short neck Anxiety Skeletal muscle atrophy Kyphosis Cerebral cortical atrophy Feeding difficulties Proximal muscle weakness Muscular dystrophy Hip dysplasia Apnea Arrhythmia Renal insufficiency Splenomegaly Congenital muscular dystrophy Flexion contracture Cardiomyopathy Muscular hypotonia Dilatation Abdominal pain Purpura Ventriculomegaly Carious teeth

Rare Symptoms - Less than 30% cases


Cognitive impairment Dilated cardiomyopathy Congestive heart failure Nystagmus Muscle fiber atrophy Recurrent pneumonia Ichthyosis Migraine Diarrhea Nausea Vertigo Nyctalopia Erythema Fever Arthritis Rod-cone dystrophy Blindness Headache Vomiting Gastrointestinal hemorrhage Respiratory insufficiency Nephrotic syndrome Specific learning disability Abnormality of immune system physiology Abnormality of the pharynx Hearing impairment Optic atrophy Abnormality of the dentition Autism Hypothyroidism Gastroesophageal reflux Anal atresia Hypopigmented skin patches Overfolded helix Schizophrenia Dysphasia Hyperthyroidism Hypoparathyroidism Seborrheic dermatitis Areflexia Stroke Increased serum lactate Rhabdomyolysis Mask-like facies Laryngomalacia Intestinal obstruction Delayed skeletal maturation Posterior subcapsular cataract Micrognathia Cleft palate Visual impairment Talipes equinovarus Adrenal insufficiency Hypertonia Long philtrum Inguinal hernia Osteoporosis Generalized hirsutism Narrow mouth Polyhydramnios Umbilical hernia Prominent nasal bridge Neurological speech impairment Arthrogryposis multiplex congenita Pulmonary arterial hypertension Decreased body weight EMG abnormality Speech apraxia Cachexia Facial diplegia Intrauterine growth retardation Calf muscle hypertrophy Difficulty climbing stairs Spinal rigidity Thigh hypertrophy Intellectual disability, mild Dysarthria Myopia Tremor Skeletal muscle hypertrophy Dystonia Cerebral atrophy Absent speech Hyperkeratosis EEG abnormality Elevated hepatic transaminase Abnormality of the liver Abnormality of the cerebral white matter Gowers sign Congenital cataract Delayed speech and language development Toe walking Proximal amyotrophy EMG: myopathic abnormalities Achilles tendon contracture Frequent falls Cerebellar cyst Pachygyria Respiratory distress Limb-girdle muscular dystrophy Heterotopia Dyspnea Cough Waddling gait Generalized muscle weakness Ventricular hypertrophy Left ventricular hypertrophy Generalized tonic-clonic seizures Vertebral fusion Infantile muscular hypotonia Truncal ataxia Generalized-onset seizure Mental deterioration Ophthalmoplegia Lethargy Pruritus Homonymous hemianopia Protruding ear Abnormality of acid-base homeostasis Abnormality of the pinna Episodic quadriplegia Developmental regression Leber optic atrophy Nausea and vomiting Proteinuria Photophobia Jaundice Acidosis Weight loss Gait ataxia Diabetes mellitus Hypogonadism Bilateral intracranial calcifications Myoclonus Dementia Cerebellar hypoplasia Hypertrophic cardiomyopathy Delayed puberty Malabsorption Coma Pigmentary retinopathy Cerebral calcification Amenorrhea Progressive night blindness Memory impairment Cochlear degeneration Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Postural instability Polyneuropathy Visual loss Nephropathy Hirsutism Abnormal mitochondrial shape Polymicrogyria Lactic acidosis Peripheral axonal neuropathy Confusion Paresthesia Dysmetria Paralytic ileus Abnormal cochlea morphology Morphological abnormality of the vestibule of the inner ear Dysphagia Encephalopathy Abnormal lung lobation Varicose veins Abnormal eyelid morphology Truncus arteriosus Meningocele Abnormality of the skull Multiple renal cysts Patellar dislocation Limb muscle weakness Turricephaly Chronic fatigue Bipolar affective disorder Posterior embryotoxon Chronic obstructive pulmonary disease Foot polydactyly Exercise-induced myalgia Bowel incontinence Increased muscle fatiguability Exercise-induced muscle fatigue Acne Chronic otitis media Abnormality of the thorax Hand polydactyly Cholelithiasis Polycystic kidney dysplasia Atelectasis Abnormality of the uterus Bilateral sensorineural hearing impairment Hypertensive crisis Hyperreflexia Peripheral neuropathy Hypertension Anemia Sensorineural hearing impairment Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Morphological abnormality of the inner ear Multiple suture craniosynostosis Abnormal aortic arch morphology Retinal arteriolar tortuosity Corneal neovascularization Anorectal anomaly Prominent ear helix Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Platybasia Small earlobe Abnormal aortic valve morphology Abnormal thrombocyte morphology Macrocephaly Hypoplasia of the thymus Tetany Abnormality of the cardiovascular system Type II diabetes mellitus Spontaneous hematomas Crohn's disease Renal Fanconi syndrome Delusions Tubulointerstitial abnormality Transient ischemic attack Psychotic episodes Progressive external ophthalmoplegia Mitochondrial myopathy Heart block Abnormality of the cerebellar vermis Xerostomia Vitiligo Hemeralopia Auditory hallucinations Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Abnormal macular morphology Atopic dermatitis Spotty hypopigmentation Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Thyroiditis Abnormal nerve conduction velocity Cardiorespiratory arrest Basal ganglia calcification Retinal pigment epithelial atrophy Persistence of primary teeth Writer's cramp Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Left ventricular failure Amaurosis fugax Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Gastroparesis Aortic dissection Kyphoscoliosis Glomerulopathy Cochlear malformation Paronychia Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Exercise intolerance Nasal speech Type I diabetes mellitus Hypogonadotrophic hypogonadism Cardiac arrest Clonus Abnormal mitochondrial morphology Mutism Cerebral visual impairment Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Anorexia Involuntary movements Hypertrichosis Hemiparesis Edema of the dorsum of hands Atrial fibrillation Psychosis Status epilepticus Ischemic stroke Goiter Progressive sensorineural hearing impairment Bifid scrotum Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Vestibular dysfunction Aphasia Bundle branch block Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Aplasia/Hypoplasia of the cerebellum Hyperkinesis Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Atrioventricular block Chronic kidney disease Growth abnormality Impulsivity Short philtrum Mildly elevated creatine phosphokinase Lymphadenopathy Shoulder girdle muscle atrophy Optic disc pallor Eczema Dehydration Aciduria Hypertrophy of the lower limb Spasticity Limitation of joint mobility Sepsis Abdominal distention Retinal dystrophy Infertility Vasculitis Papule Skin rash Pallor Postnatal growth retardation Hepatosplenomegaly Arthralgia Hyperhidrosis Pneumonia Brachycephaly Frontal bossing Neoplasm Aplasia of the fingers Long eyelashes Conjunctivitis Abnormal isoelectric focusing of serum transferrin Shoulder girdle muscle weakness Optic neuritis Neutrophilia Erysipelas Porokeratosis Neuritis Increased IgA level Chills Recurrent aphthous stomatitis Peritonitis Large forehead Acrocyanosis Poor coordination Restrictive deficit on pulmonary function testing Peripheral visual field loss Uveitis Episodic fever Subcapsular cataract Amyloidosis Colitis Elevated erythrocyte sedimentation rate Hypermelanotic macule Leukocytosis Hypoplasia of the pons Apathy Urticaria Adactyly Reduced antithrombin III activity Serositis Lower limb spasticity Poor speech Dry skin Abnormality of movement Unsteady gait Hypoglycemia Alopecia Inability to walk Hepatic steatosis Chorea Focal-onset seizure Apraxia Exophoria Tetraplegia Cerebral white matter atrophy Abnormal levels of creatine kinase in blood Intellectual disability, borderline Right ventricular dilatation Alacrima Scapular winging Recurrent ear infections Achalasia Esophagitis Progressive proximal muscle weakness Restrictive ventilatory defect CNS hypomyelination Neutropenia Abnormal bleeding Type I transferrin isoform profile Ventricular fibrillation Aplasia/Hypoplasia of the nipples Congenital hepatic fibrosis Hypoketotic hypoglycemia Myocarditis Epileptic spasms Microcytic anemia Lipoatrophy Neurodevelopmental delay Abnormality of coagulation Bilateral talipes equinovarus Hyperglycemia Erythroderma Cyanosis Sacral dimple Ventricular tachycardia Leukopenia Severe muscular hypotonia Sparse eyelashes Aspiration Bradycardia Sparse and thin eyebrow Postnatal microcephaly Thin skin Inflammatory abnormality of the skin Hypsarrhythmia Cervical lymphadenopathy Pharyngitis Abnormality of dental enamel Abnormally straight spine Behavioral abnormality Reduced muscle fiber alpha dystroglycan Atrial septal defect Hydrocephalus Ventricular septal defect Downslanted palpebral fissures Wide nasal bridge Epicanthus Low-set ears Cryptorchidism Abnormal facial shape Long eyelashes in irregular rows Immunodeficiency Elevated aldolase level Testicular torsion Odontogenic neoplasm Shoulder flexion contracture Pursed lips Prenatal movement abnormality Metatarsus valgus Protrusio acetabuli Abnormally ossified vertebrae Flexion contracture of toe Weak voice Wrist flexion contracture Malar flattening Microphthalmia Aplasia/Hypoplasia affecting the eye Arachnodactyly Hypocalcemia Spina bifida Aganglionic megacolon Choanal atresia Renal hypoplasia Tetralogy of Fallot Intestinal malrotation Vesicoureteral reflux Asthma Bulbous nose Long face Joint hyperflexibility Abnormality of cardiovascular system morphology Athetosis Autoimmunity Telecanthus Conductive hearing impairment Limb-girdle muscle atrophy Fatty replacement of skeletal muscle Glaucoma Upslanted palpebral fissure Patent ductus arteriosus Hypospadias Obesity Thrombocytopenia Distichiasis Trismus Absent septum pellucidum Hypokinesia Micromelia Genu valgum Increased variability in muscle fiber diameter Platyspondyly Generalized amyotrophy Pectus carinatum Blepharophimosis Joint stiffness Irritability Low-set, posteriorly rotated ears Pes planus Skeletal dysplasia Everted lower lip vermilion Centrally nucleated skeletal muscle fibers Limb-girdle muscle weakness Type 1 muscle fiber predominance Abnormal glycosylation Pectus excavatum Hypoglycosylation of alpha-dystroglycan Impaired visuospatial constructive cognition Triceps weakness Facial palsy Macroglossia High palate Delayed gross motor development Flat face Microcornea Blepharospasm Abnormality of the urinary system Abnormal eyebrow morphology Malignant hyperthermia Sprengel anomaly Abnormality of the ureter Hip contracture Autistic behavior Increased number of teeth High pitched voice Myotonia Elbow dislocation Ectopia lentis Lumbar hyperlordosis Dysphonia Full cheeks Coxa vara Wormian bones Coxa valga Low anterior hairline Increased bone mineral density Abnormality of epiphysis morphology Nephrolithiasis Bowing of the long bones Abnormality of the metaphysis Abnormality of the ribs Decreased testicular size Dental malocclusion Elevated creatine kinase after exercise



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Skeletal dysplasia, related diseases and genetic alterations Dysarthria and Visual loss, related diseases and genetic alterations Hydrocephalus and Glioma, related diseases and genetic alterations Myopathy and Lower limb muscle weakness, related diseases and genetic alterations Muscle weakness and Joint hypermobility, related diseases and genetic alterations

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