Cognitive impairment, and Areflexia

Diseases related with Cognitive impairment and Areflexia

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Areflexia that can help you solving undiagnosed cases.


Top matches:

Low match ATAXIA-OCULOMOTOR APRAXIA TYPE 4


Ataxia-oculomotor apraxia-4 is an autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. Additional features include oculomotor apraxia and peripheral neuropathy. Some patients may show cognitive impairment. The disorder is progressive, and most patients become wheelchair-bound in the second or third decade (summary by Bras et al., 2015).For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (OMIM ).

ATAXIA-OCULOMOTOR APRAXIA TYPE 4 Is also known as aoa4

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cognitive impairment
  • Peripheral neuropathy
  • Cerebellar atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA TYPE 4

Low match DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2


Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2 Is also known as charcot-marie-tooth neuropathy, type 2t|charcot-marie-tooth disease, axonal, autosomal recessive, type 2t|dnajb2-related cmt2

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Peripheral neuropathy
  • Gait disturbance
  • Cerebral atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2

Low match SPINOCEREBELLAR ATAXIA TYPE 4


Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 4 Is also known as spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy|sca4

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Peripheral neuropathy
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 4

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET


The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011).

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET

Low match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6


A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6 Is also known as north sea progressive myoclonus epilepsy|pme type 6|gosr2-related progressive myoclonus ataxia|epm6|progressive myoclonus epilepsy type 6

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6

Low match COASY PROTEIN-ASSOCIATED NEURODEGENERATION


COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.

COASY PROTEIN-ASSOCIATED NEURODEGENERATION Is also known as copan|neurodegeneration with brain iron accumulation due to coasy mutation|nbia6

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about COASY PROTEIN-ASSOCIATED NEURODEGENERATION

Low match AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17


ALS17 is an adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency (summary by Cox et al., 2010).

AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17 Is also known as amyotrophic lateral sclerosis, chmp2b-related

Related symptoms:

  • Muscle weakness
  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia
  • Respiratory insufficiency


SOURCES: MESH OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43


Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43 Is also known as spg43

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Flexion contracture
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43

Low match SPINOCEREBELLAR ATAXIA TYPE 43


Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.

SPINOCEREBELLAR ATAXIA TYPE 43 Is also known as sca43

Related symptoms:

  • Pain
  • Dysarthria
  • Areflexia
  • Hyporeflexia
  • Pes cavus


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 43

Low match JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME


JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME Is also known as combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Areflexia

Symptoms // Phenotype % cases
Hyporeflexia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cognitive impairment and Areflexia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Distal sensory impairment Babinski sign Pes cavus Skeletal muscle atrophy Cerebellar atrophy Dementia Difficulty walking Progressive cerebellar ataxia Distal amyotrophy Sensorimotor neuropathy Peripheral axonal neuropathy Impaired vibratory sensation Gait ataxia

Rare Symptoms - Less than 30% cases


Elevated serum creatine phosphokinase Motor deterioration Paraplegia Tremor Spastic paraplegia Mental deterioration Neurodegeneration Spasticity Amyotrophic lateral sclerosis Absent Achilles reflex Fasciculations Motor axonal neuropathy Sensory impairment Tetraplegia Cerebral atrophy Unsteady gait Dystonia Foot dorsiflexor weakness Bulbar signs Frontotemporal dementia Spastic paraparesis Brisk reflexes Sensory neuropathy Hyperreflexia Visual loss Flexion contracture Distal muscle weakness Spastic gait Abnormal lower motor neuron morphology Generalized hypotonia Motor neuron atrophy Tongue atrophy Tongue fasciculations Spastic dysarthria Respiratory insufficiency due to muscle weakness Lower limb muscle weakness Respiratory failure Respiratory insufficiency Dysphagia Knee flexion contracture Cogwheel rigidity Progressive spasticity Short stature Sensory ataxia Areflexia of lower limbs Demyelinating peripheral neuropathy Atrophy/Degeneration affecting the brainstem Type I diabetes mellitus Decreased body weight Bilateral sensorineural hearing impairment Diabetes mellitus Intellectual disability, mild Sensorineural hearing impairment Hearing impairment Distal upper limb muscle weakness Bulbar palsy Hypometric saccades Eye of the tiger anomaly of globus pallidus Decreased number of large peripheral myelinated nerve fibers Distal lower limb muscle weakness Cerebellar vermis atrophy Limb ataxia Pectus carinatum Pain Flexion contracture of finger Hyperactive patellar reflex Poor fine motor coordination Ankle contracture Abnormal caudate nucleus morphology Depressivity Abnormality of thalamus morphology Impaired tactile sensation Calf muscle hypertrophy Hammertoe Spinal muscular atrophy Ragged-red muscle fibers Progressive muscle weakness Intention tremor Muscle cramps Pes planus Myopathy Limb dysmetria Seizures Impaired proprioception Impaired smooth pursuit Sensory axonal neuropathy Dysmetria Abnormality of movement Poor speech Alzheimer disease Abnormal pyramidal sign Oculomotor apraxia Apraxia Mitochondrial myopathy Scoliosis Abnormal corpus striatum morphology Bradykinesia Motor tics Abnormal globus pallidus morphology Oromandibular dystonia Tics Toe walking Obsessive-compulsive behavior Paraparesis Tetraparesis Spastic tetraplegia Parkinsonism Fever Developmental regression Rigidity Behavioral abnormality Atonic seizures Absence seizures Clumsiness Cutaneous photosensitivity Febrile seizures Myoclonus Syndactyly Atrophy of the spinal cord



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Gait disturbance, related diseases and genetic alterations Hydrocephalus and Hypertrichosis, related diseases and genetic alterations Edema and Hemolytic anemia, related diseases and genetic alterations Ptosis and Abnormal cerebellum morphology, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more