Hyperreflexia, and Pes cavus

Diseases related with Hyperreflexia and Pes cavus

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Pes cavus that can help you solving undiagnosed cases.

Top matches:

Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 14 Is also known as spg14

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Gait disturbance


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 14

Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.

CHARCOT-MARIE-TOOTH DISEASE TYPE 2H Is also known as cmt2h|ar-cmt2c|axonal charcot-marie-tooth disease with pyramidal involvement|autosomal recessive axonal cmt4c2|charcot-marie-tooth disease, axonal, with pyramidal features, autosomal recessive|charcot-marie-tooth neuropathy, axonal, with pyramidal feature

Related symptoms:

  • Skeletal muscle atrophy
  • Pes cavus
  • Distal muscle weakness
  • Distal amyotrophy
  • Distal sensory impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2H

DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5 Is also known as spinal muscular atrophy, distal, with upper limb predominance|dhmn va|hmn5|hmn va|neuropathy, distal hereditary motor, type va|distal spinal muscular atrophy type 5|spinal muscular atrophy, distal, type va|dsmav|dhmn5|distal hereditary motor neuropathy ty

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5

Other less relevant matches:

Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28 Is also known as spg28

Related symptoms:

  • Scoliosis
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28

Autosomal spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.

AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72 Is also known as spg72

Related symptoms:

  • Pain
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Babinski sign


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72

Childhood- and adolescent-onset forms of familial ALS (see ALS1, {105400}) carry the designation 'juvenile ALS.' Several forms of autosomal recessive juvenile ALS have been identified; see ALS2 (OMIM ) and ALS5 (OMIM ).

AMYOTROPHIC LATERAL SCLEROSIS TYPE 4 Is also known as als4|neuronopathy, distal hereditary motor, with pyramidal features|distal hereditary motor neuropathy with upper motor neuron signs|dhmn with upper motor neuron signs

Related symptoms:

  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Gait disturbance
  • Babinski sign


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS TYPE 4

Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 42 Is also known as spg42

Related symptoms:

  • Seizures
  • Muscle weakness
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Babinski sign


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 42

Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.

SPINOCEREBELLAR ATAXIA TYPE 23 Is also known as sca23

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 23

Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by Guelly et al., 2011).For a discussion of genetic heterogeneity of HSAN, see HSAN1A (OMIM ).Spastic paraplegia-3A (SPG3A ) is an allelic disorder with a different phenotype.

Related symptoms:

  • Muscle weakness
  • Pain
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D

AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY Is also known as mild peroxismal disorder due to pex10 deficiency

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Dysarthria
  • Intellectual disability, mild
  • Pes cavus


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY

Top 5 symptoms//phenotypes associated to Hyperreflexia and Pes cavus

Symptoms // Phenotype % cases
Babinski sign Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Spastic paraplegia Common - Between 50% and 80% cases
Lower limb muscle weakness Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Pes cavus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Paraplegia Spastic gait Spasticity Lower limb hypertonia Difficulty walking Distal sensory impairment Distal amyotrophy Distal muscle weakness Motor axonal neuropathy Limb muscle weakness Lower limb spasticity Abnormal pyramidal sign Muscle weakness

Rare Symptoms - Less than 30% cases

Sensory neuropathy Clonus Impaired vibration sensation in the lower limbs Tremor Progressive cerebellar ataxia Impaired vibratory sensation Rigidity Peripheral axonal neuropathy Limb ataxia Sensory impairment Brisk reflexes Dysarthria Gait disturbance Hyporeflexia Hypertonia Intellectual disability, mild Pain Dementia Spinal cord lesion Peripheral demyelination Degeneration of the lateral corticospinal tracts Abnormality of the cerebrospinal fluid Neuronal loss in central nervous system Polyneuropathy Progressive pes cavus Gait ataxia Abnormal lower-limb motor evoked potentials Ataxia Dysmetria Cerebellar atrophy Agenesis of corpus callosum Abnormality of eye movement Intellectual disability Paresthesia Sensorimotor neuropathy Distal sensory loss of all modalities Very long chain fatty acid accumulation Abnormal head movements Diffuse cerebellar atrophy Mydriasis Impaired smooth pursuit Progressive gait ataxia Oculomotor apraxia Truncal ataxia Type II diabetes mellitus Global developmental delay Autoamputation Osteomyelitis Cerebellar vermis atrophy Sensory axonal neuropathy Cerebral palsy Nail dysplasia Nail dystrophy Impaired distal vibration sensation Kinetic tremor CNS demyelination Impaired proprioception Head tremor Slow saccadic eye movements Action tremor Lower limb amyotrophy Abnormality of higher mental function Progressive spastic paraplegia Spinal muscular atrophy First dorsal interossei muscle atrophy First dorsal interossei muscle weakness Thenar muscle weakness Peroneal muscle weakness Thenar muscle atrophy Hand muscle weakness Upper limb muscle weakness Limb hypertonia Hammertoe Pes planus Scoliosis Areflexia Hyperactive patellar reflex Axonal regeneration Hyperreflexia in upper limbs Absent Achilles reflex Decreased number of peripheral myelinated nerve fibers Steppage gait Foot dorsiflexor weakness Progressive spasticity Cold-induced hand cramps Unsteady gait Lower limb hyperreflexia Axonal degeneration EMG abnormality Seizures Pallor of dorsal columns of the spinal cord Diffuse axonal swelling Peripheral axonal degeneration Abnormal upper motor neuron morphology Degeneration of anterior horn cells Abnormal lower motor neuron morphology Axonal loss Amyotrophic lateral sclerosis Postural instability Impaired vibration sensation at ankles Upper limb spasticity Urinary bladder sphincter dysfunction Toe walking Postural tremor Muscle stiffness Memory impairment Abolished vibration sense Impaired tactile sensation Pain insensitivity Abnormality of phytanic acid metabolism


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