Generalized hypotonia, and Urinary incontinence

Diseases related with Generalized hypotonia and Urinary incontinence

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Urinary incontinence that can help you solving undiagnosed cases.

Top matches:

Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY Is also known as saposin b deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

ARX-related mental retardation is a form of nonsyndromic X-linked mental retardation. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2 ) to Proud syndrome (OMIM ) to infantile spasms without brain malformations (EIEE1 ) to Partington syndrome (OMIM ) (Kato et al., 2004; Wallerstein et al., 2008).

MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED; MRXARX Is also known as mrx32|mrx38|mental retardation, x-linked 76|mental retardation, x-linked 38|mental retardation, x-linked 29|mrx54|mrx76|mental retardation, x-linked 32|mrx43|mrx29|mental retardation, x-linked 54|mental retardation, x-linked 33|mrx33|mental retardation, x

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED; MRXARX

Other less relevant matches:

Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant peripheral neuropathy characterized by onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment. The disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood (summary by Sevilla et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z Is also known as autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation|cmt2z|charcot-marie-tooth disease, axonal, autosomal dominant, type 2z|charcot-marie-tooth neuropathy, type 2z

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z

Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by Cox et al., 2006; and Goldberg et al., 2012).Hereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by Yuan et al., 2013).For a discussion of genetic heterogeneity of HSAN, see HSAN1 (OMIM ).

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP Is also known as congenital analgesia, autosomal recessive|insensitivity to pain, channelopathy-associated|asymbolia for pain

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 13 Is also known as sca13

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 13

Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77 Is also known as spg77

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77

Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6|hmn6|neuronopathy, distal hereditary motor, type vi|spinal muscular atrophy, diaphragmatic|autosomal recessive distal spinal muscular atrophy type 1|autosomal recessive spinal muscular atrophy with respiratory distress|dsma1|distal-hmn type 6|diaphr

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.

NEUROFERRITINOPATHY Is also known as neuroferritinopathy|ferritin-related neurodegeneration|hereditary ferritinopathy|adult basal ganglia disease|basal ganglia disease, adult-onset

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NEUROFERRITINOPATHY

METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM Is also known as arylsulfatase a deficiency, juvenile form|mld, juvenile form

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Urinary incontinence

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Babinski sign Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Urinary incontinence. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Peripheral neuropathy Hyperreflexia Developmental regression Spasticity Hearing impairment Hyporeflexia Dysphagia Intellectual disability Decreased nerve conduction velocity Difficulty walking Optic atrophy Bradykinesia Dystonia Motor delay Skeletal muscle atrophy Ataxia Cognitive impairment

Rare Symptoms - Less than 30% cases

Small for gestational age Abnormal facial shape Gait ataxia Mental deterioration Constipation Leukodystrophy Areflexia Hypertonia Loss of speech Pain Dysphonia Intellectual disability, mild Flexion contracture Behavioral abnormality Scoliosis Hyperhidrosis Dementia Abnormal autonomic nervous system physiology Myoclonus Emotional lability Muscular hypotonia Intention tremor Language impairment Tremor Short stature Gait disturbance Peripheral axonal neuropathy Lower limb muscle weakness Limb muscle weakness Abnormal pyramidal sign Clumsiness Distal muscle weakness Hemiparesis Diaphragmatic weakness Nocturnal hypoventilation Inspiratory stridor Diaphragmatic paralysis EMG: neuropathic changes Diaphragmatic eventration Degeneration of anterior horn cells Spinal muscular atrophy Recurrent lower respiratory tract infections Weak cry Hypoventilation Axonal degeneration Increased CSF protein Tachypnea Failure to thrive Paraplegia Punctate periventricular T2 hyperintense foci Dysmetria Metabolic acidosis Lower limb spasticity Cerebral palsy Poor head control Abnormality of mitochondrial metabolism Vertebral fusion Lower limb amyotrophy Growth delay Feeding difficulties Severe muscular hypotonia Intrauterine growth retardation Talipes equinovarus Respiratory insufficiency Respiratory distress Respiratory failure Paralysis Camptodactyly of finger Abnormality of the foot Distal amyotrophy Premature birth Decreased fetal movement Progressive muscle weakness Peripheral axonal degeneration Neurodegeneration Ventilator dependence with inability to wean Writer's cramp Hypomimic face EMG: chronic denervation signs Cholecystitis Progressive peripheral neuropathy Vegetative state Short attention span Progressive gait ataxia Orofacial dyskinesia Disinhibition Laryngeal dystonia Abnormality of the basal ganglia Anarthria Limb dystonia Subcortical dementia Micrographia Decreased serum ferritin Akinetic mutism Cavitation of the basal ganglia Reduced visual acuity Abdominal distention Bilateral sensorineural hearing impairment Frequent falls Hallucinations Delusions Blepharospasm Orthostatic hypotension Denervation of the diaphragm Parkinsonism Cerebral atrophy Abnormality of metabolism/homeostasis Rigidity Abnormality of eye movement Abnormality of movement Unsteady gait Retinal degeneration Dyskinesia Abnormality of visual evoked potentials Abnormal cerebellum morphology Abnormality of glycosphingolipid metabolism Abnormal social behavior Decerebrate rigidity Chorea Hypotension Abnormality of extrapyramidal motor function Psychosis Choreoathetosis Involuntary movements Mutism Schizophrenia Progressive psychomotor deterioration Personality changes Oral-pharyngeal dysphagia Spastic diplegia Spastic paraplegia Nystagmus Apnea CNS demyelination Agnosia Oromotor apraxia EEG with centrotemporal focal spike waves Continuous spike and waves during slow sleep Polyneuropathy Peripheral demyelination Tetraparesis Spastic tetraparesis Abnormality of the periventricular white matter Motor deterioration Spastic hemiparesis Speech apraxia Macrocephaly Obesity Pes planus Thick lower lip vermilion Lissencephaly Infantile spasms Long palpebral fissure Periorbital fullness Pes cavus Proximal muscle weakness Perisylvian polymicrogyria Epileptic spasms Sensory neuropathy Neurological speech impairment Microcephaly Delayed speech and language development Intellectual disability, severe Encephalopathy Hyperactivity Autism EEG abnormality Intellectual disability, moderate Autistic behavior Attention deficit hyperactivity disorder Polymicrogyria Aphasia Generalized myoclonic seizures Progressive cerebellar ataxia Focal-onset seizure Febrile seizures Epileptic encephalopathy Generalized-onset seizure Apraxia Status epilepticus Dysdiadochokinesis Dysphasia Distal sensory impairment Muscle cramps Muscular hypotonia of the trunk Urinary urgency Hyposmia Recurrent corneal erosions Pain insensitivity Acetabular dysplasia Painless fractures due to injury Cerebellar atrophy Postural instability Optic disc pallor Limb ataxia Torticollis Hyperactive deep tendon reflexes Bowel incontinence Difficulty running Titubation Impaired distal vibration sensation Jerky ocular pursuit movements Upgaze palsy Impaired visuospatial constructive cognition Strabismus Ptosis Acidosis Retrognathia Decreased number of peripheral myelinated nerve fibers Anhidrosis Sensory impairment Onion bulb formation Split hand Spastic gait Clonus Fasciculations Sensorimotor neuropathy Foot dorsiflexor weakness Hammertoe Sensory axonal neuropathy Brisk reflexes High pitched voice Distal lower limb muscle weakness Steppage gait Myokymia Decreased number of large peripheral myelinated nerve fibers Neck flexor weakness Sensorineural hearing impairment Hepatomegaly Fever Elevated hepatic transaminase Hepatic failure Recurrent fractures Hypohidrosis Anosmia Abnormality of proteoglycan metabolism


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Convex nasal ridge, related diseases and genetic alterations Myopia and Type II diabetes mellitus, related diseases and genetic alterations Tremor and Eczema, related diseases and genetic alterations Pain and Hip dislocation, related diseases and genetic alterations Cleft palate and Intrauterine growth retardation, related diseases and genetic alterations