Intellectual disability, and Distal sensory impairment

Diseases related with Intellectual disability and Distal sensory impairment

In the following list you will find some of the most common rare diseases related to Intellectual disability and Distal sensory impairment 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

Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

Related symptoms:

  • Motor delay
  • Skeletal muscle atrophy
  • Gait disturbance
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

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

CHARCOT-MARIE-TOOTH DISEASE TYPE 1A Is also known as cmt1a|microduplication 17p12|charcot-marie-tooth neuropathy, type 1f

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

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

Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3 Is also known as charcot-marie-tooth disease with focally folded myelin|cmt4b3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3

Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001). Genetic Heterogeneity of Ataxia-Oculomotor ApraxiaSee also AOA2 (OMIM ), caused by mutation in the SETX gene (OMIM ) on chromosome 9q34; AOA3 (OMIM ), caused by mutation in the PIK3R5 gene (OMIM ) on chromosome 17p; and AOA4 (OMIM ), caused by mutation in the PNKP gene (OMIM ) on chromosome 19q13.

ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH Is also known as eoca-ha|aoa|ataxia-oculomotor apraxia syndrome|ataxia-oculomotor apraxia 1|aoa1|cerebellar ataxia, early-onset, with hypoalbuminemia|ataxia-telangiectasia-like syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH

Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1 Is also known as scan1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55 Is also known as spg55

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55

Top 5 symptoms//phenotypes associated to Intellectual disability and Distal sensory impairment

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Areflexia Common - Between 50% and 80% cases
Distal muscle weakness Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability and Distal sensory impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Ataxia Gait ataxia Sensory impairment Decreased nerve conduction velocity Onion bulb formation Pes cavus Cerebellar atrophy Cognitive impairment Gait disturbance Sensory neuropathy Hyporeflexia Strabismus Dysarthria Sensory axonal neuropathy Scoliosis Ophthalmoplegia Progressive cerebellar ataxia Sensorimotor neuropathy Tremor Distal amyotrophy Motor delay Nystagmus Peripheral axonal neuropathy

Rare Symptoms - Less than 30% cases

Lower limb muscle weakness Gaze-evoked nystagmus Hypercholesterolemia Oculomotor apraxia Fasciculations Pain Telangiectasia Apraxia Brain atrophy Distal lower limb muscle weakness Spasticity Hyperreflexia Optic atrophy Talipes equinovarus Intellectual disability, mild Reduced visual acuity Immunodeficiency Foot dorsiflexor weakness Cerebellar vermis atrophy Steppage gait Hypoalbuminemia Axonal regeneration Generalized hypotonia Decreased number of peripheral myelinated nerve fibers Abnormal pyramidal sign Limb muscle weakness Demyelinating peripheral neuropathy Paresthesia Decreased sensory nerve conduction velocity Global brain atrophy Axonal loss Delayed ability to walk Impaired vibration sensation in the lower limbs Spinocerebellar tract degeneration Spastic dysarthria Spastic paraparesis Paraparesis Pain insensitivity Impaired distal proprioception Scotoma Neoplasm Seizures Limb fasciculations Peripheral axonal degeneration Optic neuropathy Facial grimacing Hypometric saccades Central scotoma Decreased number of large peripheral myelinated nerve fibers Upper limb muscle weakness Progressive external ophthalmoplegia Poor fine motor coordination Progressive distal muscle weakness Focal white matter lesions Failure to thrive Feeding difficulties High palate Babinski sign Broad-based gait Triangular face Syringomyelia Wide nose Chronic constipation Axonal degeneration Smooth philtrum Poor speech Abnormal facial shape Hypoplasia of the corpus callosum Hypertonia Abnormality of the foot Abnormal cardiac septum morphology Joint laxity Failure to thrive in infancy Thin upper lip vermilion Upslanted palpebral fissure Difficulty walking Constipation Spastic paraplegia Arthrogryposis multiplex congenita Abnormal heart morphology Long philtrum Paraplegia Lower limb spasticity Downslanted palpebral fissures Clonus Delayed speech and language development Unsteady gait Hepatic fibrosis Impaired vibratory sensation Segmental peripheral demyelination/remyelination Impaired pain sensation Hammertoe Sleep disturbance Elevated serum creatine phosphokinase Kyphosis Sensorineural hearing impairment Hearing impairment Clusters of axonal regeneration Spontaneous pain sensation Acute demyelinating polyneuropathy Shoulder pain Myelin outfoldings Diaphragmatic weakness Microcephaly Progressive peripheral neuropathy Sensory ataxia Gait imbalance Hyperactive deep tendon reflexes Calf muscle hypertrophy Decreased motor nerve conduction velocity Infantile muscular hypotonia Kyphoscoliosis Hand muscle atrophy Peripheral demyelination Proximal muscle weakness Arrhythmia Paralysis Motor axonal neuropathy Syndactyly External ophthalmoplegia Acute hepatic failure Truncal ataxia Limb ataxia Choreoathetosis Chorea Mental deterioration Dementia Recurrent infections Dystonia Stuttering Generalized limb muscle atrophy Dysmetric saccades Saccadic smooth pursuit Progressive gait ataxia Glaucoma Short stature Frequent falls Intention tremor Hepatic failure Abnormality of the liver Hepatosplenomegaly Splenomegaly Fever Hepatomegaly Urinary incontinence Polyneuropathy Facial palsy Pes planus Tibialis muscle weakness


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