Hyperreflexia, and Distal muscle weakness

Diseases related with Hyperreflexia and Distal muscle weakness

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

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:

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

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C Is also known as neuropathy, hereditary sensory, type ic|hsn1c|hsn ic|hsan ic

Related symptoms:

  • Seizures
  • Scoliosis
  • Muscle weakness
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C

Autosomal recessive juvenile amyotrophic lateral sclerosis-5 is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE; ALS5

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 73 is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73 Is also known as spg73

Related symptoms:

  • Seizures
  • Muscle weakness
  • Spasticity
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73

Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

Related symptoms:

  • Strabismus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

Top 5 symptoms//phenotypes associated to Hyperreflexia and Distal muscle weakness

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Babinski sign Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Spastic gait Spastic paraplegia Pes cavus Distal amyotrophy Paraplegia Gait disturbance Lower limb muscle weakness Lower limb spasticity Distal sensory impairment Sensory neuropathy Abnormality of the foot Difficulty walking Motor axonal neuropathy Amyotrophic lateral sclerosis Limb muscle weakness Impaired vibration sensation in the lower limbs Progressive spastic paraplegia

Rare Symptoms - Less than 30% cases

Distal lower limb muscle weakness Urinary incontinence First dorsal interossei muscle atrophy Urinary urgency Abnormal lower motor neuron morphology Proximal muscle weakness Seizures Dementia Sensory impairment Hyporeflexia Abnormal pyramidal sign Cognitive impairment Areflexia Limb hypertonia Thenar muscle weakness First dorsal interossei muscle weakness Pes planus Thenar muscle atrophy Lower limb hypertonia Hand muscle weakness Brisk reflexes Foot dorsiflexor weakness Hypertonia Spinal muscular atrophy Small hand Split hand Paraparesis Bulbar signs Hand muscle atrophy Spastic paraparesis Tremor Hip pain Knee pain Postural tremor Progressive spasticity Decreased number of large peripheral myelinated nerve fibers Abnormality of the cerebrospinal fluid Ankle weakness Strabismus Impaired distal tactile sensation Demyelinating sensory neuropathy Demyelinating motor neuropathy Impaired distal proprioception Impaired temperature sensation Impaired distal vibration sensation Arthritis Abnormal lower-limb motor evoked potentials Abnormality of the foot musculature Progressive pes cavus Fasciculations Progressive spastic paraparesis Degeneration of the lateral corticospinal tracts Distal lower limb amyotrophy Impaired vibratory sensation EMG abnormality Abnormal motor nerve conduction velocity Respiratory insufficiency due to muscle weakness Global developmental delay Hypoplasia of the corpus callosum Upper limb muscle weakness Abnormal upper motor neuron morphology Degeneration of anterior horn cells Axonal loss Axonal degeneration Clonus Cold-induced hand cramps Peroneal muscle weakness Hammertoe Diffuse axonal swelling Hyperactive patellar reflex Axonal regeneration Hyperreflexia in upper limbs Absent Achilles reflex Decreased number of peripheral myelinated nerve fibers Steppage gait Paralysis Peripheral axonal degeneration Pallor of dorsal columns of the spinal cord Dysarthria Skin ulcer Autoamputation Distal sensory loss of all modalities Hand clenching Dysesthesia Osteomyelitis Anhidrosis Abnormal autonomic nervous system physiology Sensorimotor neuropathy Ataxia Peripheral axonal neuropathy Scoliosis Generalized limb muscle atrophy Atrophy of the spinal cord Short stature Gait ataxia Cerebellar atrophy Abnormality of the skeletal system Abnormal brainstem MRI signal intensity


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