Hydrocephalus, and Spinal muscular atrophy

Diseases related with Hydrocephalus and Spinal muscular atrophy

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


Top matches:

Low match OXOGLUTARIC ACIDURIA


Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder (see this term), resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.

OXOGLUTARIC ACIDURIA Is also known as 2-ketoglutarate dehydrogenase deficiency|alpha-kgd deficiency|oxoglutaric aciduria|alpha-ketoglutarate dehydrogenase deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OXOGLUTARIC ACIDURIA

Low match FRIED SYNDROME


Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Muscular hypotonia
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRIED SYNDROME

Low match NDE1-RELATED MICROHYDRANENCEPHALY


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

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M


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

Low match STEINERT MYOTONIC DYSTROPHY


Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

STEINERT MYOTONIC DYSTROPHY Is also known as dm1|md1|myotonic dystrophy type 1|steinert disease

Related symptoms:

  • Strabismus
  • Muscular hypotonia
  • Cataract
  • Cryptorchidism
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about STEINERT MYOTONIC DYSTROPHY

Low match FOWLER SYNDROME


The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 1


Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.

PONTOCEREBELLAR HYPOPLASIA TYPE 1 Is also known as pch1|norman disease|pontocerebellar hypoplasia with infantile spinal muscular atrophy|pontocerebellar hypoplasia with anterior horn cell disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 1

Low match SPINOCEREBELLAR ATAXIA 2; SCA2


Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (OMIM ), SCA2, and SCA3, or Machado-Joseph disease (OMIM ). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 2; SCA2 Is also known as wadia-swami syndrome|spinocerebellar ataxia, cuban type|olivopontocerebellar atrophy, holguin type|spinocerebellar degeneration with slow eye movements|olivopontocerebellar atrophy ii|spinocerebellar atrophy ii|cerebellar degeneration with slow eye moveme

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 2; SCA2

Low match MACHADO-JOSEPH DISEASE; MJD


Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease.Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).

MACHADO-JOSEPH DISEASE; MJD Is also known as spinocerebellar ataxia 3|spinocerebellar atrophy iii|spinopontine atrophy|azorean neurologic disease|nigrospinodentatal degeneration|sca3

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MACHADO-JOSEPH DISEASE; MJD

Low match INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.

INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA Is also known as pagetoid neuroskeletal syndrome|msp1|pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with paget disease of bone|limb-girdle muscular dystrophy with paget disease of bone|ibmpfd|lower motor neuron degener

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Cataract
  • Skeletal muscle atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA

Top 5 symptoms//phenotypes associated to Hydrocephalus and Spinal muscular atrophy

Symptoms // Phenotype % cases
Skeletal muscle atrophy Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hydrocephalus and Spinal muscular atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Ataxia Fasciculations Visual impairment Microcephaly Nystagmus Motor delay Talipes equinovarus Ventriculomegaly Cerebellar hypoplasia Generalized amyotrophy Muscle weakness Limb ataxia Peripheral neuropathy Optic atrophy Dysphagia Sensory neuropathy Abnormal cerebellum morphology Urinary bladder sphincter dysfunction Short stature Dystonia Dementia Neuronal loss in central nervous system Intellectual disability Distal amyotrophy Hypertonia

Rare Symptoms - Less than 30% cases


Fatty replacement of skeletal muscle Sleep disturbance Neurodegeneration EMG: neuropathic changes Gaze-evoked nystagmus Limb-girdle muscular dystrophy Tongue fasciculations Impaired vibratory sensation Scapular winging Cataract Lumbar hyperlordosis Waddling gait External ophthalmoplegia Muscular dystrophy Hyperlordosis Proximal muscle weakness Truncal ataxia Dyskinesia Spinocerebellar tract degeneration Hyporeflexia Supranuclear ophthalmoplegia Polyhydramnios Palatal myoclonus Dilatation Impaired horizontal smooth pursuit Downbeat nystagmus Akinesia Seizures Olivopontocerebellar atrophy Dysmetric saccades Cerebral calcification Back pain Amyotrophic lateral sclerosis Hypometric saccades Dilated fourth ventricle Facial palsy Elevated serum creatine phosphokinase Decreased fetal movement Diplopia Poor head control Proptosis Rigidity Bradykinesia Gait ataxia Intellectual disability, severe Brain atrophy Myoclonus Tetraparesis Abnormality of the eye Hyperreflexia Macrotia Intellectual disability, progressive Abnormality of extrapyramidal motor function Hypoplasia of the brainstem Progressive cerebellar ataxia Growth delay Severe hydrocephalus Postural instability Hydranencephaly Dysarthria Tremor Parkinsonism Abnormality of eye movement Cerebellar atrophy Gait disturbance Ophthalmoplegia Agenesis of corpus callosum Calvarial hyperostosis Cranial nerve compression Pigmentary retinopathy Pelvic girdle muscle atrophy Pontocerebellar atrophy Chorea Hypopnea Nevus Central nervous system degeneration Elevated alkaline phosphatase of bone origin Frontal cortical atrophy Poor coordination Oculomotor apraxia Drooling Pain Postural tremor Ubiquitin-positive cerebral inclusion bodies Progressive neurologic deterioration Resting tremor Temporal cortical atrophy Slow saccadic eye movements Pelvic girdle amyotrophy Abnormality of long bone morphology Semantic dementia Action tremor Scapuloperoneal weakness Abnormal motor neuron morphology Broad-based gait Dysdiadochokinesis Shoulder girdle muscle weakness Ptosis Alzheimer disease Limb muscle weakness Hepatic steatosis Progressive muscle weakness Osteolysis EMG: myopathic abnormalities Mutism Abnormality of pelvic girdle bone morphology Dyscalculia Elevated alkaline phosphatase Increased susceptibility to fractures Language impairment Increased variability in muscle fiber diameter Sensory axonal neuropathy Aphasia Respiratory failure Dysphasia Difficulty climbing stairs Pathologic fracture Abnormality of the vertebral column Rimmed vacuoles Abnormality of calvarial morphology EMG: chronic denervation signs Shoulder girdle muscle atrophy Hip pain Pelvic girdle muscle weakness Upper motor neuron dysfunction Frontotemporal dementia Progressive proximal muscle weakness Motor axonal neuropathy Distal muscle weakness Cerebral cortical atrophy Depressivity Decreased number of peripheral myelinated nerve fibers Babinski sign Diabetes mellitus Anxiety Motor neuron atrophy Abnormal pyramidal sign Leukemia Unsteady gait Confusion Polyneuropathy Muscle cramps Gliosis Abnormal autonomic nervous system physiology Ophthalmoparesis Atrophy/Degeneration affecting the brainstem Congestive heart failure Progressive external ophthalmoplegia Delusions Absent Achilles reflex Spastic dysarthria Myokymia Low back pain Chronic pain Torsion dystonia Restless legs Delirium Facial-lingual fasciculations Abnormal electrooculogram Cardiomyopathy Myopathy Hallucinations Congenital contracture Retinal degeneration Frequent falls Pachygyria Knee flexion contracture Athetosis Multiple joint contractures Self-mutilation Profound global developmental delay Pectus excavatum Pes cavus Myalgia Dilated cardiomyopathy Falls Tachycardia Reduced tendon reflexes Sloping forehead Infantile muscular hypotonia Gowers sign Skeletal muscle hypertrophy Calf muscle hypertrophy Spinal rigidity Motor deterioration Wolff-Parkinson-White syndrome Neck flexor weakness Abnormal glycosylation Hypoglycosylation of alpha-dystroglycan Moderately reduced ejection fraction Muscle fiber hypertrophy Spastic tetraplegia Generalized myoclonic seizures Strabismus Scoliosis Acidosis Hypoglycemia Muscular hypotonia of the trunk Abnormality of movement Lactic acidosis Metabolic acidosis Increased serum lactate Abnormal salivary gland morphology Congenital lactic acidosis Abnormal urine alpha-ketoglutarate concentration Abnormality of Krebs cycle metabolism Hearing impairment High palate Small for gestational age Coarse facial features Aggressive behavior Intellectual disability, moderate Autistic behavior Short philtrum Poor speech Long face Spastic diplegia Thickened calvaria Abnormality of the optic nerve Hypoplasia of the corpus callosum Prominent nasal bridge Reduced muscle fiber merosin Cryptorchidism Dysmetria Mitochondrial respiratory chain defects Intellectual disability, mild Feeding difficulties in infancy Paralysis Abnormality of the foot Progressive microcephaly Poor suck Brisk reflexes Hypoplasia of the pons Enlarged cisterna magna Degeneration of anterior horn cells Abnormal anterior horn cell morphology Olivopontocerebellar hypoplasia Neuronal loss in basal ganglia Multiple pterygia Basal ganglia gliosis Intercostal muscle weakness Hypoplasia of the ventral pons Cognitive impairment Cerebral atrophy Rod-cone dystrophy Difficulty walking Neonatal hypotonia Mental deterioration Apnea Pallor Retinopathy Respiratory insufficiency Limb joint contracture Respiratory distress Micrognathia Abnormality of cardiovascular system morphology Hip dislocation EMG abnormality Myotonia Mask-like facies Non-midline cleft lip Abnormality of the endocrine system Testicular atrophy Abnormality of the upper urinary tract Abnormal hair quantity First degree atrioventricular block Hernia of the abdominal wall Cleft palate Fetal akinesia sequence Low-set ears Intrauterine growth retardation Macrocephaly Abnormality of metabolism/homeostasis Arthrogryposis multiplex congenita Premature birth Dandy-Walker malformation Hypsarrhythmia Microretrognathia Lissencephaly Pterygium Cystic hygroma Weakness of muscles of respiration



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