Hydrocephalus, and Limb muscle weakness

Diseases related with Hydrocephalus and Limb muscle weakness

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

Top matches:

Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.

ARNOLD-CHIARI MALFORMATION TYPE II Is also known as cm2|arnold-chiari malformation|chiari malformation type ii|chiari malformation type 2|arnold-chiari malformation type 2

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARNOLD-CHIARI MALFORMATION TYPE II

Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

BETA-MANNOSIDOSIS Is also known as beta-mannosidase deficiency|beta-mannosidosis|lysosomal beta-mannosidase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BETA-MANNOSIDOSIS

X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Other less relevant matches:

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscle weakness


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS

Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.

ATYPICAL TERATOID RHABDOID TUMOR Is also known as atrt

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL TERATOID RHABDOID TUMOR

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cataract
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

NDE1-RELATED MICROHYDRANENCEPHALY Is also known as hydranencephaly and microcephaly|mhac

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NDE1-RELATED MICROHYDRANENCEPHALY

Top 5 symptoms//phenotypes associated to Hydrocephalus and Limb muscle weakness

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Limb muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Ataxia Lower limb muscle weakness Macrocephaly Abnormal facial shape Spasticity Skeletal muscle atrophy Intellectual disability, severe Ventriculomegaly Microcephaly Cataract Flexion contracture Cognitive impairment Feeding difficulties Hearing impairment Dysphagia Respiratory insufficiency Cerebellar hypoplasia Agenesis of corpus callosum Nystagmus Myopia

Rare Symptoms - Less than 30% cases

Talipes equinovarus Elevated serum creatine phosphokinase Kyphoscoliosis Polymicrogyria High forehead Muscular dystrophy Urinary glycosaminoglycan excretion Microphthalmia Respiratory failure Cerebral calcification Scoliosis Myopathy Anemia Gait disturbance Dolichocephaly Corneal opacity Absent speech Abnormality of retinal pigmentation Motor delay Short stature Limitation of joint mobility Intellectual disability, mild Myelopathy Cor pulmonale Knee flexion contracture Apathy Multiple joint contractures Long face Retinal degeneration Macrotia Congestive heart failure Glaucoma Communicating hydrocephalus Visual impairment Severe muscular hypotonia Hip dysplasia Lissencephaly Proptosis Partial agenesis of the corpus callosum Spastic tetraplegia Dilatation Cerebral cortical atrophy Hepatosplenomegaly Arnold-Chiari malformation Unsteady gait Recurrent respiratory infections Apnea Paralysis Weak cry Cerebellar cyst Tremor Headache Stridor Congenital muscular dystrophy Poor head control Hypoplasia of the corpus callosum Increased intracranial pressure Heart murmur Restrictive ventilatory defect Hypoplasia of the brainstem Toe walking Abnormality of dental morphology Widely spaced teeth Chronic otitis media Abnormality of the metacarpal bones Athetosis Coxa valga Opacification of the corneal stroma Coarse hair Easy fatigability Abnormality of dental enamel Back pain Optic nerve hypoplasia Exertional dyspnea Chronic sinusitis Sparse axillary hair Hydrocele testis Tracheal stenosis Dysostosis multiplex Abnormality of the ulna Hypoplastic iliac wing Diastasis recti Spinal cord compression Obstructive sleep apnea Abnormal heart valve morphology Intellectual disability, progressive Papilledema Blepharitis Peripheral visual field loss Protuberant abdomen Rhinitis Generalized amyotrophy Hyperactive deep tendon reflexes Arthropathy Spinal canal stenosis Abnormal vertebral morphology Generalized hirsutism Pectus carinatum Astigmatism Genu valgum Hydranencephaly Synophrys Carious teeth Hypermetropia Platyspondyly Nyctalopia Wide nose Abnormal pyramidal sign Camptodactyly of finger Craniosynostosis Joint stiffness Conductive hearing impairment Umbilical hernia Arthralgia Coarse facial features Hirsutism Profound global developmental delay Congenital hip dislocation Lumbar hyperlordosis Elbow flexion contracture Short ribs Aortic valve stenosis Sparse pubic hair Thickened skin Lower limb spasticity Abnormal form of the vertebral bodies Recurrent otitis media Abnormality of the ribs Thick vermilion border Cardiomegaly Microdontia Progressive visual loss Otitis media Self-mutilation Asthma Macroglossia Sleep disturbance Broad ribs Abnormal cornea morphology Dilation of lateral ventricles Contractures of the joints of the upper limbs Adducted thumb Aganglionic megacolon Severe global developmental delay Buphthalmos Agyria Hyperreflexia Abnormality of the humeral epiphysis Abnormality of the styloid process of ulna Increased size of nasopharyngeal adenoids Holoprosencephaly Widely patent coronal suture Prominent nasal bridge Abnormality of glycosaminoglycan metabolism Abnormality of the lumbar spine Abnormality of the glenoid fossa Abnormality of cranial sutures Anterior scalloping of vertebral bodies Abnormality of femoral epiphysis Inferior vermis hypoplasia Irritability Abnormality of the sella turcica Malignant neoplasm of the central nervous system Leukoencephalopathy Hypoplasia of the pons Retinal detachment Cerebellar dysplasia Type II lissencephaly Muscular hypotonia of the trunk Abnormality of the cerebral white matter Blindness Reduced consciousness/confusion Nausea and vomiting Hemiplegia/hemiparesis Cerebral palsy Retinal dystrophy Cranial nerve paralysis High myopia Intellectual disability, profound Cerebellar vermis hypoplasia Leukodystrophy Migraine Abnormal metaphyseal trabeculation Abnormality of the skull base Pachygyria Brain atrophy Abnormality of the optic disc Aortic valve calcification Abnormality of the radius Small for gestational age Corneal crystals Peripheral edema Generalized myoclonic seizures Abnormal nerve conduction velocity Wide cranial sutures Hip subluxation Sloping forehead Tetraparesis Platybasia Carpal bone hypoplasia Abnormal diaphysis morphology Nasal obstruction Shield chest Sagittal craniosynostosis Flared iliac wings Abnormality of the gingiva J-shaped sella turcica Posterior scalloping of vertebral bodies Abnormality of mucopolysaccharide metabolism Abnormality of lysosomal metabolism Short tubular bones of the hand Small abnormally formed scapulae Abnormality of the breast Dilated third ventricle Skeletal dysplasia Abnormality of the tonsils Limited shoulder movement Abnormality of the acetabulum Mitral valve calcification Dermatan sulfate excretion in urine Thickened ribs Progressive flexion contractures Optic nerve compression Frontal hirsutism Cervical instability Delayed menarche Hernia of the abdominal wall Heparan sulfate excretion in urine Exercise-induced muscle stiffness Decreased adenosylcobalamin Retrognathia Abnormal bleeding EMG abnormality Narrow face Decreased liver function Progressive muscle weakness Nephrolithiasis Decreased fetal movement Hepatitis Waddling gait Dental malocclusion Generalized muscle weakness Accelerated skeletal maturation Inability to walk Arachnodactyly Ophthalmoplegia Facial palsy Polyhydramnios Dyspnea Mandibular prognathia Areflexia Midface retrusion Nephrocalcinosis External ophthalmoplegia Fatigue Centrally nucleated skeletal muscle fibers Nocturnal hypoventilation Fractures of the long bones Cavernous hemangioma Diaphragmatic eventration Spherocytosis Head tremor Facial diplegia Hypoventilation Neck muscle weakness Hypokinesia Sleep apnea Long fingers Mask-like facies Neonatal respiratory distress Myotonia Ophthalmoparesis Pyloric stenosis Cholelithiasis Atrioventricular block Hemangioma Respiratory distress High palate Slender toe Delayed speech and language development Aggressive behavior Brachycephaly Hyperactivity Babinski sign Abnormality of metabolism/homeostasis Recurrent infections Cerebral atrophy Dysarthria Peripheral neuropathy Occipital neuralgia Neurological speech impairment Cervical myelopathy Inspiratory stridor Bulbar signs Myelomeningocele Syringomyelia Opisthotonus Spina bifida Heterotopia Cyanosis Attention deficit hyperactivity disorder Generalized tonic-clonic seizures Ptosis Subcortical cerebral atrophy Cryptorchidism Increased urinary disaccharide excretion Hypoplasia of the abdominal wall musculature Aspartylglucosaminuria Tortuosity of conjunctival vessels Phonic tics Angiokeratoma corporis diffusum Angiokeratoma Thenar muscle atrophy Demyelinating peripheral neuropathy Epileptic encephalopathy Tics Proximal amyotrophy Pendular nystagmus Neurodevelopmental delay Impulsivity Laryngomalacia Spastic tetraparesis Narrow palpebral fissure Intention tremor Premature adrenarche Birth length greater than 97th percentile Osteopenia Methylmalonic acidemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Atrophy of the spinal cord Decreased methylmalonyl-CoA mutase activity Hemolytic-uremic syndrome Right ventricular failure Gastritis Homocystinuria Methylmalonic aciduria Megaloblastic anemia Thromboembolism Disproportionate tall stature Ectopia lentis Hypomethioninemia Diffuse hepatic steatosis Slurred speech Abnormality of the dentition Hyperkeratosis Abdominal pain Severe short stature Pes cavus Constipation Inguinal hernia Hernia Kyphosis Splenomegaly Diarrhea Cystathioninemia Cardiomyopathy Short neck Anteverted nares Hepatomegaly Depressed nasal bridge Sensorineural hearing impairment Micrognathia Hypertelorism Thyroglossal cyst Hemiplegia Atherosclerosis Respiratory failure requiring assisted ventilation Gait ataxia Hip dislocation Retinopathy Feeding difficulties in infancy Mental deterioration Proteinuria Arthritis Difficulty walking Acidosis Reduced visual acuity Weight loss Congenital cataract Dementia Depressivity Thrombocytopenia Renal insufficiency Hypertension Low-set ears Failure to thrive Growth delay Hepatic hemangioma Lethargy Malabsorption Anorexia Urinary incontinence Recurrent urinary tract infections Broad-based gait Pulmonary arterial hypertension Psychosis Pancytopenia Abnormality of extrapyramidal motor function Pigmentary retinopathy Memory impairment Aciduria Neutropenia Smooth philtrum Metabolic acidosis Hepatic steatosis Hematuria Nephropathy Hemolytic anemia Joint hypermobility Abnormality of skin pigmentation Paresthesia Confusion Severe hydrocephalus


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