Hyperreflexia, and Lower limb muscle weakness

Diseases related with Hyperreflexia and Lower limb muscle weakness

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Lower limb muscle weakness 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

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Talipes equinovarus
  • Babinski sign


SOURCES: MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33

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

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

This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39 Is also known as spastic paraplegia due to neuropathy target esterase mutation|spg39|nte-related motor neuron disorder|spastic paraplegia due to nte mutation|ntemnd

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39

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

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

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17 Is also known as silver spastic paraplegia syndrome|silver syndrome|spastic paraplegia-amyotrophy of hands and feet|spg17|spastic paraplegia with amyotrophy of hands and feet

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17

Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 41 Is also known as spg41

Related symptoms:

  • Seizures
  • Muscle weakness
  • Hyperreflexia
  • Proximal muscle weakness
  • Spastic paraplegia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 41

Top 5 symptoms//phenotypes associated to Hyperreflexia and Lower limb muscle weakness

Symptoms // Phenotype % cases
Babinski sign Very Common - Between 80% and 100% cases
Spastic paraplegia Very Common - Between 80% and 100% cases
Spastic gait Common - Between 50% and 80% cases
Paraplegia Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Lower limb muscle weakness. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Lower limb spasticity

Uncommon Symptoms - Between 30% and 50% cases

Spasticity

Common Symptoms - More than 50% cases

Pes cavus

Uncommon Symptoms - Between 30% and 50% cases

Skeletal muscle atrophy Muscle weakness Gait disturbance Motor axonal neuropathy Lower limb hypertonia Sensory impairment Distal amyotrophy Limb muscle weakness Distal muscle weakness Hand muscle weakness Difficulty walking Progressive spastic paraplegia Clonus Hypertonia

Rare Symptoms - Less than 30% cases

Impaired vibration sensation in the lower limbs Lower limb amyotrophy Degeneration of the lateral corticospinal tracts Abnormality of the cerebrospinal fluid First dorsal interossei muscle atrophy Cerebellar atrophy EMG abnormality Spinal cord lesion Abnormal lower-limb motor evoked potentials Amyotrophic lateral sclerosis Small hand Distal sensory impairment Lower limb hyperreflexia Intellectual disability First dorsal interossei muscle weakness Limb hypertonia Intellectual disability, mild Progressive spasticity Cognitive impairment Ankle clonus Pes planus Spinal muscular atrophy Thenar muscle weakness Brisk reflexes Seizures Thenar muscle atrophy Paraparesis Hip pain Postural tremor Hand muscle atrophy Proximal muscle weakness Spastic paraparesis Abnormal motor nerve conduction velocity Abnormality of the foot musculature Generalized limb muscle atrophy Knee pain Progressive pes cavus Ankle weakness Hypoplasia of the corpus callosum Cerebral atrophy Tremor Abnormality of the foot Split hand Foot dorsiflexor weakness Pain insensitivity Atrophy of the spinal cord Impaired tactile sensation Talipes equinovarus Areflexia Hyporeflexia Hammertoe Upper limb muscle weakness Peroneal muscle weakness Cold-induced hand cramps Scoliosis Rigidity Unsteady gait Peripheral axonal neuropathy Postural instability Abolished vibration sense Distal lower limb muscle weakness Abnormal pyramidal sign Axonal degeneration Axonal loss Abnormal lower motor neuron morphology Degeneration of anterior horn cells Abnormal upper motor neuron morphology Peripheral axonal degeneration Diffuse axonal swelling Pallor of dorsal columns of the spinal cord Ataxia Abnormality of the skeletal system Gait ataxia Urinary urgency


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