Global developmental delay, and Sensory neuropathy

Diseases related with Global developmental delay and Sensory neuropathy

In the following list you will find some of the most common rare diseases related to Global developmental delay and Sensory neuropathy that can help you solving undiagnosed cases.

Top matches:

HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Peripheral neuropathy
  • Areflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.

ABETAL34V AMYLOIDOSIS Is also known as abetal34v-related amyloidosis|abeta amyloidosis, piedmont type|hchwa, piedmont type|hereditary cerebral hemorrhage with amyloidosis, piedmont type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Behavioral abnormality
  • Dementia
  • Stroke


SOURCES: ORPHANET MENDELIAN

More info about ABETAL34V AMYLOIDOSIS

Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4J Is also known as charcot-marie-tooth disease, autosomal recessive, type 4j|cmt4j

Related symptoms:

  • Global developmental delay
  • Muscle weakness
  • Pain
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4J

Other less relevant matches:

X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as neuropathy, axonal motor-sensory, with deafness and mental retardation|charcot-marie-tooth disease with deafness and mental retardation|cowchock syndrome|nadmr|cmt4x|namsd|charcot-marie-tooth disease, x-linked recessive, 4|cmtx4

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME Is also known as spoan|spg68|autosomal recessive spastic paraplegia type 68

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 Is also known as mhp1|fhm

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

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

For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age ({36,39:Lupski et al., 1991, 1992}).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A Is also known as hereditary motor and sensory neuropathy ia|hmsn ia|charcot-marie-tooth neuropathy, type 1a|hmsn1a|charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

Top 5 symptoms//phenotypes associated to Global developmental delay and Sensory neuropathy

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Areflexia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Sensory neuropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Distal muscle weakness Distal sensory impairment Intellectual disability Ataxia Paresthesia Tremor Skeletal muscle atrophy Migraine Pes cavus Sensorimotor neuropathy Nystagmus Hyporeflexia Seizures Hammertoe Cognitive impairment Sensory axonal neuropathy Scoliosis Onion bulb formation Gait ataxia Decreased nerve conduction velocity Dysarthria Hemiplegia Coma Generalized hypotonia Pain

Rare Symptoms - Less than 30% cases

Dystonia Transient unilateral blurring of vision Difficulty walking Foot dorsiflexor weakness Peripheral axonal neuropathy Distal amyotrophy Split hand Limb muscle weakness Delayed gross motor development Spasticity Fever Migraine without aura Confusion Migraine with aura Episodic ataxia Edema Intellectual disability, mild Headache Drowsiness Dysphasia Intellectual disability, moderate Dysmetria Hemiparesis Abnormal cerebellum morphology Decreased number of peripheral myelinated nerve fibers Axonal loss Decreased motor nerve conduction velocity Frequent falls Stroke Peripheral demyelination Sensory impairment Gait disturbance Polyneuropathy Elevated serum creatine phosphokinase Behavioral abnormality Proximal muscle weakness Falls Motor axonal neuropathy Paralysis Flexion contracture Kyphosis Hypertrophic nerve changes Upper limb dysmetria Myelin outfoldings Reticulocytosis Focal aware seizure Abnormal nervous system electrophysiology Ulnar claw Cold-induced muscle cramps Progressive distal muscular atrophy Demyelinating peripheral neuropathy Axonal regeneration Delayed myelination Myokymia Decreased number of large peripheral myelinated nerve fibers Neck flexor weakness Kyphoscoliosis Apnea Abnormality of the foot Hypoglycorrhachia Lymphoma Hypopnea Progressive muscle weakness Sleep apnea Steppage gait Neurofibromas Hodgkin lymphoma Anemia Segmental peripheral demyelination/remyelination Microcephaly Myoclonus Jerky head movements Horizontal nystagmus Choreoathetosis Involuntary movements Lower limb spasticity Limb ataxia Progressive microcephaly High pitched voice Absence seizures Torsion dystonia Action tremor Slurred speech Focal impaired awareness seizure Hand tremor Impulsivity Atonic seizures Generalized-onset seizure Abnormality of the head Hyperreflexia Generalized tonic-clonic seizures Cerebral atrophy Hyperactive deep tendon reflexes EEG abnormality Aggressive behavior Mental deterioration Irritability Abnormality of movement Specific learning disability Dyskinesia Paroxysmal dystonia Hemolytic anemia Chorea Paroxysmal dyskinesia Limb dysmetria Focal-onset seizure Distal lower limb muscle weakness Blurred vision Brisk reflexes Optic disc pallor Developmental regression Photophobia Depressivity Vomiting Blindness Delayed speech and language development Hyperreflexia proximally Exaggerated startle response Hyporeflexia of lower limbs Distal lower limb amyotrophy Impaired vibration sensation in the lower limbs Progressive spastic paraplegia Multiple joint contractures Abnormality of extrapyramidal motor function Paraplegia Vertigo Spastic paraplegia Hyperhidrosis Optic atrophy Impaired pain sensation Sleep disturbance Sensorineural hearing impairment Peripheral hypomyelination Ankle contracture Distal arthrogryposis Difficulty climbing stairs Unsteady gait Abnormality of the cerebral vasculature Cerebral hemorrhage Dementia Autistic behavior Nausea Dysphonia Hallucinations Fasciculations Clonus Spastic gait Urinary incontinence Muscle cramps Lower limb muscle weakness Abnormal pyramidal sign Babinski sign Hypertonia Psychotic episodes Dyscalculia Auditory hallucinations Visual hallucinations Agitation Psychosis Apraxia Retinal degeneration Anxiety Cerebellar atrophy Personality disorder Borderline personality disorder Phonophobia Restlessness Severe hearing impairment Short stature Aphasia Loss of consciousness Tinnitus Diplopia Intention tremor Generalized tonic-clonic seizures without focal onset


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