Hydrocephalus, and Muscle cramps

Diseases related with Hydrocephalus and Muscle cramps

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

Top matches:

Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

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

Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs.

MACHADO-JOSEPH DISEASE TYPE 1 Is also known as spinocerebellar ataxia type 3, joseph type|sca3, joseph type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 1

Other less relevant matches:

Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.

MACHADO-JOSEPH DISEASE TYPE 2 Is also known as sca3, thomas type|spinocerebellar ataxia, thomas type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 2

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

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A Is also known as ad-spg9a|spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome|cataracts-motor neuropathy-short stature-skeletal anomalies syndrome

Related symptoms:

  • Seizures
  • Sensorineural hearing impairment
  • Muscle weakness
  • Tremor
  • Babinski sign


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A

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

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Muscle cramps

Symptoms // Phenotype % cases
Cerebellar atrophy Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Babinski sign Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Abnormal pyramidal sign Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Skeletal muscle atrophy Ventriculomegaly Gaze-evoked nystagmus Progressive cerebellar ataxia Diplopia Generalized muscle weakness Peripheral neuropathy Dysphagia Proptosis Intellectual disability Memory impairment Abnormality of extrapyramidal motor function Generalized hypotonia Vestibular dysfunction Spinocerebellar tract degeneration Dilated fourth ventricle Supranuclear ophthalmoplegia Facial-lingual fasciculations Seizures Myalgia Progressive external ophthalmoplegia Vocal cord paralysis Neurogenic bladder Progressive gait ataxia Difficulty walking Degeneration of the striatum Substantia nigra gliosis Pain Muscle weakness Abnormality of temperature regulation Tremor Hyperreflexia Upper motor neuron dysfunction Delayed speech and language development Abnormality of the cerebral white matter Clumsiness Global developmental delay Postural instability Distal lower limb amyotrophy Abnormal cerebellum morphology Sleep disturbance Dilatation

Rare Symptoms - Less than 30% cases

Frequent falls Proximal muscle weakness EMG: myopathic abnormalities Congenital muscular dystrophy Toe walking Feeding difficulties Proximal amyotrophy Achilles tendon contracture Cerebellar cyst Horizontal nystagmus Scoliosis Facial palsy Pachygyria Flexion contracture Elevated serum creatine phosphokinase Peripheral axonal neuropathy Heterotopia Myopathy Ophthalmoparesis Hemiplegia Rhabdomyolysis Spastic dysarthria Downbeat nystagmus Low back pain Rigidity Dementia Depressivity Vomiting Neonatal hypotonia Motor delay Distal muscle weakness Nystagmus Ataxia Optic atrophy Microcephaly Tachypnea Cardiac arrest Metabolic acidosis Pigmentary retinopathy Decreased liver function Sensory impairment Hydrops fetalis Hypotension Hepatic steatosis Coma Respiratory tract infection Distal sensory impairment Congestive heart failure Myotonia Loss of consciousness Cerebellar vermis atrophy Malignant hyperthermia Episodic ataxia Saccadic smooth pursuit Failure to thrive Muscular hypotonia Respiratory insufficiency Respiratory distress Cardiomyopathy Edema Renal insufficiency Hepatic failure Hyporeflexia Recurrent respiratory infections Respiratory failure Acidosis Hypoglycemia Elevated hepatic transaminase Abnormality of the liver Retinopathy Small for gestational age Dilated cardiomyopathy Lethargy Lactic acidosis Hyperammonemia Decreased number of peripheral myelinated nerve fibers Decreased nerve conduction velocity Polyneuropathy Gait ataxia Atrophy/Degeneration affecting the brainstem Anxiety Abnormality of the eye Leukemia Ophthalmoplegia Abnormality of eye movement Unsteady gait Confusion Distal amyotrophy Sensory neuropathy Neurodegeneration Parkinsonism Delusions Gliosis Neuronal loss in central nervous system Bradykinesia Limb ataxia Hallucinations Fasciculations Truncal ataxia Abnormal autonomic nervous system physiology External ophthalmoplegia Back pain Spinal muscular atrophy Akinesia Impaired vibratory sensation Urinary bladder sphincter dysfunction Diabetes mellitus Tricuspid regurgitation Impaired horizontal smooth pursuit Myoglobinuria Hypoparathyroidism Hypoketotic hypoglycemia Skeletal myopathy Progressive peripheral neuropathy Abnormality of the amniotic fluid Recurrent myoglobinuria Prenatal maternal abnormality Exercise-induced rhabdomyolysis Acute hepatic steatosis Amyotrophic lateral sclerosis Palatal myoclonus Delirium Myoclonus Dysmetric saccades Incoordination Restless legs Hypometric saccades Torsion dystonia Chronic pain Myokymia Olivopontocerebellar atrophy Tongue fasciculations Absent Achilles reflex Respiratory failure requiring assisted ventilation Ptosis Visual impairment Focal impaired awareness seizure Feeding difficulties in infancy CNS hypomyelination Pontocerebellar atrophy Restlessness Posterior embryotoxon Hypoplasia of the iris Transient ischemic attack Facial paralysis Nuclear cataract Stroke-like episode Porencephalic cyst Primitive reflex Hemianopia Schizencephaly Visual field defect Perivascular spaces Spastic hemiparesis Antenatal intracerebral hemorrhage Kyphoscoliosis Mildly elevated creatine phosphokinase Facial diplegia Limb-girdle muscle atrophy Fatty replacement of skeletal muscle Reduced muscle fiber alpha dystroglycan EMG abnormality Limb dystonia Opisthotonus Degeneration of anterior horn cells Hematuria Strabismus Cataract Cognitive impairment Anemia Hypertonia Cerebellar hypoplasia Stroke Polymicrogyria Hemolytic anemia Renal cyst Cortical dysplasia Mitral valve prolapse Tetraparesis Hemiparesis Exotropia Leukoencephalopathy Cerebral palsy Drooling Ischemic stroke Intracranial hemorrhage Cerebral hemorrhage Dysphasia Abnormal lower motor neuron morphology Sensorineural hearing impairment Tinnitus Headache Absent septum pellucidum Shoulder girdle muscle weakness Hypoplasia of the pons Restrictive deficit on pulmonary function testing Shoulder girdle muscle atrophy Thigh hypertrophy Hypertrophy of the lower limb Fever Fatigue Hypoplasia of the corpus callosum Encephalopathy Difficulty climbing stairs EEG abnormality Apnea Nausea and vomiting Paresthesia Vertigo Nausea Migraine Focal-onset seizure Epileptic encephalopathy Intention tremor Sleep apnea Vertebral fusion Calf muscle hypertrophy Pes cavus Corpus callosum atrophy Congenital cataract Falls Urinary incontinence Psychosis Mitral regurgitation Spastic gait Urinary urgency Lower limb hyperreflexia Impaired vibration sensation in the lower limbs Enlarged cisterna magna Lower limb pain Delayed gross motor development Lower limb hypertonia Pollakisuria Anarthria Hyperreflexia in upper limbs Abnormality of the dorsal column of the spinal cord Abnormality of pain sensation Intellectual disability, mild Kyphosis Hyperlordosis Muscular dystrophy Macroglossia Abnormal electrooculogram


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