Hydrocephalus, and Myalgia

Diseases related with Hydrocephalus and Myalgia

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

Top matches:

Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

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

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

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

Other less relevant matches:

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

Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007).For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (OMIM ).

EPISODIC ATAXIA, TYPE 2; EA2 Is also known as cerebellopathy, hereditary paroxysmal|ataxia, familial paroxysmal|capa|acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|apca|cerebellar ataxia, paroxysmal, acetazolamide-responsive|ataxia, episodic, with nystagmus|episodic ataxia, nystagmu

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 2; EA2

The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS ), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003).Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003).See also isolated LCHAD deficiency (OMIM ), which is caused by mutation in the HADHA gene.

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD Is also known as trifunctional protein deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD

MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

NASU-HAKOLA DISEASE Is also known as plosl|dementia, prefrontal, with bone cysts|plo-sl|dementia, progressive, with lipomembranous polycystic osteodysplasia|nasu-hakola disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|brain-bone-fat disease|nhd|presenile d

Related symptoms:

  • Seizures
  • Pain
  • Spasticity
  • Gait disturbance
  • Ventriculomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NASU-HAKOLA DISEASE

Top 5 symptoms//phenotypes associated to Hydrocephalus and Myalgia

Symptoms // Phenotype % cases
Ventriculomegaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Short stature Muscle cramps Myopathy Intellectual disability, mild Proximal muscle weakness Difficulty walking Generalized muscle weakness Frequent falls Seizures Ataxia Intention tremor Growth delay Flexion contracture Micrognathia Muscular hypotonia Hearing impairment Microcephaly Failure to thrive Talipes equinovarus Tremor Pain Rhabdomyolysis Depressivity Peripheral neuropathy Hyporeflexia Kyphoscoliosis Cerebellar atrophy Elevated serum creatine phosphokinase Pes cavus Hyperlordosis

Rare Symptoms - Less than 30% cases

Cerebellar cyst Chorea Peripheral demyelination Schizophrenia Facial palsy Dilatation Kyphosis Feeding difficulties Hyperthyroidism Achilles tendon contracture Heterotopia Hypoparathyroidism Abnormality of the foot Axonal loss Secondary amenorrhea Neonatal hypotonia Proximal amyotrophy Toe walking Congenital muscular dystrophy EMG: myopathic abnormalities Abnormality of the cerebral white matter Pachygyria Cerebral cortical atrophy Sensory impairment Nystagmus Malignant hyperthermia Hepatic steatosis Distal sensory impairment Hepatic failure Myoglobinuria Retinopathy Distal muscle weakness Elevated hepatic transaminase Hypoglycemia Recurrent myoglobinuria Renal insufficiency Congestive heart failure Edema Cardiomyopathy Delayed skeletal maturation Osteoporosis Mandibular prognathia Dysmetria Small hand CNS hypomyelination Amenorrhea Primary amenorrhea Bone cyst Paresthesia EEG abnormality Cerebral atrophy Vomiting Hypoplasia of the corpus callosum Babinski sign Fever Long face Pigmentary retinopathy Behavioral abnormality Gowers sign Abnormality of the dentition Immunodeficiency Microphthalmia Optic atrophy Intrauterine growth retardation Cataract Abnormal facial shape Strabismus Splenomegaly Anxiety Spinal rigidity Calf muscle hypertrophy Skeletal muscle hypertrophy Fatty replacement of skeletal muscle Pectus excavatum Muscular dystrophy Feeding difficulties in infancy Dilated cardiomyopathy Falls Skeletal muscle atrophy Alzheimer disease Thick hair Speech articulation difficulties Enlarged interhemispheric fissure Oculomotor apraxia Cognitive impairment Abnormality of the skeletal system Prolactin excess Personality changes Mitochondrial myopathy Abnormality of the hand Reduced bone mineral density Leukoencephalopathy Skeletal myopathy Bone pain Polyneuropathy Cardiac arrest Memory impairment Tachypnea Decreased testicular size Cerebral calcification Microcornea Sensory neuropathy Multiple lipomas Congenital cataract Abnormal pyramidal sign Camptodactyly of finger Apraxia Hypogonadism Abnormality of epiphysis morphology Hyperammonemia Poor coordination Myopathic facies Progressive peripheral neuropathy Lack of insight Delayed speech and language development High palate Respiratory failure requiring assisted ventilation Hypoketotic hypoglycemia Acute hepatic steatosis Exercise-induced rhabdomyolysis Abnormal adipose tissue morphology Tricuspid regurgitation Abnormal upper motor neuron morphology Agnosia Prenatal maternal abnormality Frontal lobe dementia Abnormality of the amniotic fluid Functional abnormality of the gastrointestinal tract Caudate atrophy Inappropriate behavior Primitive reflex Increased variability in muscle fiber diameter Decreased nerve conduction velocity Dysdiadochokinesis Pathologic fracture Basal ganglia calcification Truncal ataxia Limb ataxia Neurofibrillary tangles Acute leukemia Cerebellar hypoplasia Senile plaques Inability to walk Distal amyotrophy Cerebral edema Pallor Disinhibition Gait ataxia Loss of subcutaneous adipose tissue in limbs Split hand Urinary incontinence Palpitations Pancreatitis Accelerated skeletal maturation Generalized hirsutism Muscle stiffness Abnormality of the hair Bradycardia Insulin resistance Thickened skin Myocardial infarction Atlantoaxial dislocation Atrial fibrillation Hypertriglyceridemia Ventricular hypertrophy Pulmonary arterial hypertension Epidermal acanthosis Abnormal oral cavity morphology Decreased liver function Recurrent fractures Acanthosis nigricans Atherosclerosis Hirsutism Growth hormone excess Generalized lipodystrophy Arterial stenosis Dysmenorrhea Exercise-induced myalgia Prominent superficial veins Broad foot Oligomenorrhea Progressive proximal muscle weakness IgA deficiency Polycystic ovaries Glomerulopathy Lipoatrophy Large hands Lipodystrophy Hyperinsulinemia Precocious puberty Prominent supraorbital ridges Pyloric stenosis Nephropathy Cirrhosis Interphalangeal joint contracture of finger Developmental regression Hypogonadotrophic hypogonadism Spasticity Gait disturbance Dementia Myoclonus Skeletal dysplasia Arthralgia Aggressive behavior Irritability Decreased motor nerve conduction velocity Neurological speech impairment Leukemia Abnormality of movement Gliosis Hypergonadotropic hypogonadism Long eyelashes Limitation of joint mobility Prolonged QTc interval Postural tremor Axonal degeneration Abnormality of skin pigmentation Peripheral hypomyelination Abnormal levels of creatine kinase in blood Hypertrophic cardiomyopathy Osteopenia Diabetes mellitus Hyperhidrosis Arrhythmia Recurrent infections Hepatomegaly Acute rhabdomyolysis Abnormality of skeletal muscle fiber size Upper limb postural tremor Malar prominence Abnormality of the cervical spine Motor polyneuropathy Abnormality of peripheral nerve conduction Decreased serum estradiol Motor axonal neuropathy Genu recurvatum Congenital generalized lipodystrophy Growth hormone deficiency Epileptic encephalopathy Hydrops fetalis Arachnodactyly Renal hypoplasia Tetralogy of Fallot Specific learning disability Gastrointestinal hemorrhage Intestinal malrotation Vesicoureteral reflux Asthma Bulbous nose Anal atresia Aganglionic megacolon Joint hyperflexibility Carious teeth Prominent nasal bridge Short philtrum Attention deficit hyperactivity disorder Autoimmunity Telecanthus Arthritis Choanal atresia Spina bifida Umbilical hernia Overfolded helix Bipolar affective disorder Abnormal lung lobation Posterior embryotoxon Foot polydactyly Bowel incontinence Dysphasia Acne Chronic otitis media Abnormality of the thorax Hypocalcemia Hand polydactyly Cholelithiasis Polycystic kidney dysplasia Nasal speech Laryngomalacia Hypopigmented skin patches Purpura Abnormality of dental enamel Conductive hearing impairment Gastroesophageal reflux Patellar dislocation Wolff-Parkinson-White syndrome Cleft palate Hypertelorism Reduced muscle fiber merosin Muscle fiber hypertrophy Moderately reduced ejection fraction Hypoglycosylation of alpha-dystroglycan Abnormal glycosylation Neck flexor weakness Motor deterioration Ptosis Generalized amyotrophy Limb-girdle muscular dystrophy Infantile muscular hypotonia Reduced tendon reflexes Scapular winging Lumbar hyperlordosis Waddling gait Tachycardia Cryptorchidism Low-set ears Polyhydramnios Hypospadias Hypothyroidism Narrow mouth Autism Glaucoma Upslanted palpebral fissure Constipation Inguinal hernia Patent ductus arteriosus Obesity Epicanthus Thrombocytopenia Abnormality of cardiovascular system morphology Malar flattening Long philtrum Atrial septal defect Short neck Ventricular septal defect Downslanted palpebral fissures Wide nasal bridge Turricephaly Multiple renal cysts Hypotension Progressive cerebellar ataxia Hemiplegia Incoordination Tinnitus Sleep apnea Horizontal nystagmus Diplopia Focal-onset seizure Migraine Abnormal cerebellum morphology Ophthalmoparesis Postural instability Nausea Vertigo Nausea and vomiting Apnea Rigidity Encephalopathy Headache Focal impaired awareness seizure Myotonia Fatigue Acidosis Coma Metabolic acidosis Lactic acidosis Peripheral axonal neuropathy Lethargy Small for gestational age Abnormality of the liver Respiratory tract infection Respiratory failure Loss of consciousness Recurrent respiratory infections Respiratory distress Respiratory insufficiency Downbeat nystagmus Saccadic smooth pursuit Episodic ataxia Cerebellar vermis atrophy Gaze-evoked nystagmus Vestibular dysfunction Dystonia Dysarthria Abnormality of the skull Hypoplasia of the thymus Impaired T cell function Arrhinencephaly Platybasia Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Abnormal thrombocyte morphology Seborrheic dermatitis Tetany Anorectal anomaly Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormal eyelid morphology Truncus arteriosus Meningocele Abnormal pulmonary valve morphology Retinal arteriolar tortuosity Hypertrophy of the lower limb Delayed gross motor development Thigh hypertrophy Shoulder girdle muscle atrophy Restrictive deficit on pulmonary function testing Hypoplasia of the pons Shoulder girdle muscle weakness Absent septum pellucidum Vertebral fusion Difficulty climbing stairs Macroglossia Hypertensive crisis Reduced muscle fiber alpha dystroglycan Limb-girdle muscle atrophy Facial diplegia Mildly elevated creatine phosphokinase Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Euphoria


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