Hydrocephalus, and Distal muscle weakness

Diseases related with Hydrocephalus and Distal muscle weakness

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

Top matches:

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

Other less relevant matches:

Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.

MACHADO-JOSEPH DISEASE TYPE 3 Is also known as sca3, machado type|spinocerebellar ataxia type 3, machado type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 3

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

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

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Ptosis
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY

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

JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscular dystrophy Cerebellar hypoplasia Agenesis of corpus callosum Muscular hypotonia Elevated serum creatine phosphokinase Skeletal muscle atrophy Hyperreflexia Seizures Ventriculomegaly Myopia Hypoplasia of the corpus callosum Cataract Talipes equinovarus Microcephaly Ataxia Absent speech

Rare Symptoms - Less than 30% cases

Hyperlordosis Limb-girdle muscular dystrophy Hyporeflexia Dysphagia Cerebellar atrophy Dystonia Proptosis Vocal cord paralysis Spinal rigidity Distal lower limb amyotrophy Scapular winging Reduced tendon reflexes Pectus excavatum Waddling gait Dilated cardiomyopathy Intellectual disability, severe Myopathy Poor head control Flexion contracture Joint stiffness Cerebellar cyst Generalized amyotrophy Scoliosis Kyphosis Delayed speech and language development Motor delay Abnormal facial shape Macrocephaly Congenital muscular dystrophy Polymicrogyria Lissencephaly Partial agenesis of the corpus callosum Cerebral calcification Microphthalmia Supraventricular arrhythmia Limb-girdle muscle weakness Achilles tendon contracture Reduced ejection fraction Sinus bradycardia Distal lower limb muscle weakness Proximal muscle weakness in lower limbs Pelvic girdle muscle weakness Proximal lower limb amyotrophy Increased LDL cholesterol concentration Peroneal muscle atrophy Tip-toe gait Ankle contracture Proximal muscle weakness in upper limbs Ventricular escape rhythm Peroneal muscle weakness Proximal upper limb amyotrophy Type 1 muscle fiber atrophy Pelvic girdle muscle atrophy Absent muscle fiber emerin Proximal amyotrophy Exertional dyspnea Sprengel anomaly Adducted thumb Irritability Inferior vermis hypoplasia Ichthyosis Sudden cardiac death Hypertriglyceridemia Atrial fibrillation Palpitations Bradycardia Elbow flexion contracture Respiratory insufficiency due to muscle weakness Rimmed vacuoles Aganglionic megacolon EMG: myopathic abnormalities Atrioventricular block Back pain Lipodystrophy Severe global developmental delay Myotonia Toe walking Weakness of facial musculature Intellectual disability, mild Decreased cervical spine flexion due to contractures of posterior cervical muscles Type II lissencephaly Restricted neck movement due to contractures Joint hypermobility Tremor Abnormality of the dentition Short nose Gait ataxia Kyphoscoliosis Protruding ear Pectus carinatum Talipes Dysmetria Inability to walk Depressed nasal bridge Dandy-Walker malformation Generalized-onset seizure Narrow forehead Fine hair Choreoathetosis Broad-based gait Abnormal autonomic nervous system physiology Sparse eyelashes Brittle hair Sparse eyebrow Optic atrophy Visual impairment Growth delay Skeletal muscle hypertrophy Arrhythmia Pes cavus Proximal muscle weakness Myalgia Falls Tachycardia Lumbar hyperlordosis Frequent falls Infantile muscular hypotonia Gowers sign Calf muscle hypertrophy Low-set ears Motor deterioration Wolff-Parkinson-White syndrome Neck flexor weakness Abnormal glycosylation Hypoglycosylation of alpha-dystroglycan Fatty replacement of skeletal muscle Moderately reduced ejection fraction Muscle fiber hypertrophy Reduced muscle fiber merosin Failure to thrive Hypertrophic cardiomyopathy Limitation of joint mobility Nausea and vomiting Feeding difficulties Upper motor neuron dysfunction Degeneration of anterior horn cells Dilated fourth ventricle Abnormality of temperature regulation Supranuclear ophthalmoplegia Substantia nigra gliosis Degeneration of the striatum Facial-lingual fasciculations Nystagmus Headache Spinocerebellar tract degeneration Apnea Paralysis Limb muscle weakness Cyanosis Heterotopia Spina bifida Arnold-Chiari malformation Stridor Opisthotonus Weak cry Neurogenic bladder Abnormal lower motor neuron morphology Myelomeningocele Sleep disturbance Hypoplasia of the pons Dysarthria Optic nerve hypoplasia Leukoencephalopathy Babinski sign Severe muscular hypotonia Retinal detachment Abnormal pyramidal sign Peripheral axonal neuropathy Muscle cramps Muscular hypotonia of the trunk Progressive cerebellar ataxia Memory impairment Abnormality of extrapyramidal motor function Clumsiness Diplopia EMG abnormality Vestibular dysfunction Gaze-evoked nystagmus Progressive external ophthalmoplegia Progressive gait ataxia Syringomyelia Bulbar signs Obesity Hypoplasia of the brainstem Small for gestational age Generalized myoclonic seizures Brain atrophy Sloping forehead Spastic tetraplegia Tetraparesis Pachygyria Knee flexion contracture Intellectual disability, progressive Athetosis Macrotia Multiple joint contractures Self-mutilation Profound global developmental delay Hydranencephaly Severe hydrocephalus Migraine Ptosis Gait disturbance Short neck Cerebellar dysplasia Prominent nasal bridge Cranial nerve paralysis Inspiratory stridor Abnormality of the cerebral white matter Cervical myelopathy Occipital neuralgia Blindness Cognitive impairment Malignant neoplasm of the central nervous system Reduced consciousness/confusion Dilatation Glaucoma Respiratory failure Corneal opacity Retinal dystrophy Cerebral palsy High myopia Intellectual disability, profound Cerebellar vermis hypoplasia Leukodystrophy Holoprosencephaly Hemiplegia/hemiparesis Buphthalmos Agyria Short stature Apathy Hand clenching


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