Intellectual disability, and Difficulty walking

Diseases related with Intellectual disability and Difficulty walking

In the following list you will find some of the most common rare diseases related to Intellectual disability and Difficulty walking that can help you solving undiagnosed cases.

Top matches:

Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 60 Is also known as spg60

Related symptoms:

  • Nystagmus
  • Intellectual disability, mild
  • Difficulty walking
  • Spastic paraplegia
  • Lower limb spasticity


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 60

Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67 Is also known as spg67

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Intellectual disability, mild
  • Babinski sign
  • Agenesis of corpus callosum


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67

Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.

FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA Is also known as fdfm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA

Other less relevant matches:

Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 66 Is also known as spg66

Related symptoms:

  • Intellectual disability
  • Talipes equinovarus
  • Hypoplasia of the corpus callosum
  • Areflexia
  • Cerebellar hypoplasia


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 66

Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P Is also known as muscular dystrophy, limb-girdle, type 2p|muscular dystrophy, limb-girdle, autosomal recessive 16|muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related|lgmdr16|lgmd2p

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Flexion contracture
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P

Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 32 Is also known as spg32

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Hypoplasia of the corpus callosum


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 32

Myofibrillar myopathy-7 is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness primary affecting the lower limbs and associated with joint contractures (summary by Straussberg et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MENDELIAN

More info about KYPHOSIS-LATERAL TONGUE ATROPHY-MYOFIBRILLAR MYOPATHY SYNDROME

Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.

SPINOCEREBELLAR ATAXIA TYPE 35 Is also known as sca35

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Delayed speech and language development
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 35

IECEE2 is a neurodevelopmental disorder characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable intellectual disability. The seizure type and severity varies, and seizures may be intractable in some patients. Some patients are severely affected, unable to walk or speak, whereas others show some development. Additional neurologic features, including cortical blindness, dystonia, and spasticity, may occur. Mutations occur de novo (summary by Hamdan et al., 2017).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY Is also known as autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|scar18

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY

Top 5 symptoms//phenotypes associated to Intellectual disability and Difficulty walking

Symptoms // Phenotype % cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases
Spastic gait Uncommon - Between 30% and 50% cases
Intellectual disability, mild Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Difficulty walking. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Dysarthria Cerebellar atrophy Delayed speech and language development Nystagmus Flexion contracture Limb hypertonia Lower limb spasticity Ataxia Unsteady gait

Rare Symptoms - Less than 30% cases

Muscle weakness Elevated serum creatine phosphokinase Hyperlordosis Peripheral neuropathy Lumbar hyperlordosis Seizures Spasticity Dyskinesia Incoordination Limb ataxia Dysmetria Inability to walk Talipes equinovarus Hypoplasia of the corpus callosum Gait ataxia Progressive spastic paraplegia Spastic paraplegia Impaired vibration sensation in the lower limbs Motor delay Tremor Abnormality of movement Myoclonus Dystonia Gaze-evoked nystagmus Oculomotor apraxia Abnormality of the orbital region Dysdiadochokinesis Dysmetric saccades Pseudobulbar paralysis Hand tremor Torticollis Neck muscle weakness Cerebellar vermis atrophy Feeding difficulties Rotary nystagmus Frequent falls Intention tremor Progressive cerebellar ataxia Falls Ophthalmoplegia Abnormal pyramidal sign Mental deterioration Intellectual disability, moderate Microcephaly Poor speech Visual impairment Epileptic encephalopathy Brain atrophy Neurological speech impairment Gait disturbance Cognitive impairment Limb myoclonus Congenital microcephaly Brisk reflexes Cerebral visual impairment Postnatal microcephaly Hypsarrhythmia Febrile seizures Blindness Abnormality of the cerebral white matter Generalized tonic-clonic seizures Lethargy Esotropia Optic disc pallor Apraxia EEG abnormality Encephalopathy Truncal ataxia Absent speech Abnormality of eye movement Horizontal nystagmus Lower limb muscle weakness Myofibrillar myopathy Dilated cardiomyopathy Cerebellar hypoplasia Areflexia Facial myokymia Paroxysmal dyskinesia Orofacial dyskinesia Myokymia Resting tremor Delayed gross motor development Involuntary movements Choreoathetosis Chorea Muscular hypotonia of the trunk Lower limb amyotrophy Anxiety Hypertonia Congestive heart failure Cardiomyopathy Aplasia/Hypoplasia of the cerebellar vermis Limb tremor Abnormal myelination Generalized amyotrophy Cerebral cortical atrophy Agenesis of corpus callosum Motor axonal neuropathy Colpocephaly Chronic sensorineural polyneuropathy Achilles tendon contracture Progressive spasticity Nemaline bodies Spinal rigidity Elbow flexion contracture Progressive muscle weakness Abnormality of the foot Facial palsy Hyporeflexia Kyphosis Behavioral abnormality Myopathy Skeletal muscle atrophy Ankle clonus Intellectual disability, severe Lower limb hyperreflexia Paraplegia Pes cavus Cerebral atrophy Tonsillitis Hypoglycosylation of alpha-dystroglycan Limb-girdle muscle weakness Ankle contracture Gowers sign Limb-girdle muscular dystrophy Waddling gait Muscular dystrophy Functional motor deficit


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