Muscle weakness, and Babinski sign

Diseases related with Muscle weakness and Babinski sign

In the following list you will find some of the most common rare diseases related to Muscle weakness and Babinski sign that can help you solving undiagnosed cases.


Top matches:

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 14


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

Medium match SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33

Medium match DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5


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

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28


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

Medium match DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2


Distal spinal muscular atrophy-2 is an autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade; there is no sensory involvement (summary by Li et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of DSMA, see HMN1 (OMIM ).

DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2 Is also known as hmnj|dhmn2|distal spinal muscular atrophy type 2|neuronopathy, distal hereditary motor, jerash type|neuropathy, distal hereditary motor, jerash type|dsma2|spinal muscular atrophy, jerash type

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Hyporeflexia
  • Babinski sign


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2

Medium match AMYOTROPHIC LATERAL SCLEROSIS TYPE 4


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

Medium 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

Medium match PRIMARY LATERAL SCLEROSIS


Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.

PRIMARY LATERAL SCLEROSIS Is also known as pls, adult|adult-onset primary lateral sclerosis|adult-onset pls|pls|plsa

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PRIMARY LATERAL SCLEROSIS

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39


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

Medium match SPASTIC PARAPLEGIA-PAGET DISEASE OF BONE SYNDROME


Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.

Related symptoms:

  • Gait disturbance
  • Babinski sign
  • Arthralgia
  • Spastic paraplegia
  • Recurrent fractures


SOURCES: ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-PAGET DISEASE OF BONE SYNDROME

Top 5 symptoms//phenotypes associated to Muscle weakness and Babinski sign

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Spastic gait Common - Between 50% and 80% cases
Spastic paraplegia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Muscle weakness and Babinski sign. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Gait disturbance Pes cavus Lower limb muscle weakness Paraplegia Lower limb spasticity Skeletal muscle atrophy Motor axonal neuropathy Distal amyotrophy Hyporeflexia Distal muscle weakness Limb muscle weakness Sensory impairment

Rare Symptoms - Less than 30% cases


Peripheral axonal neuropathy Distal sensory impairment Brisk reflexes Hammertoe Abnormal upper motor neuron morphology Spinal muscular atrophy Difficulty walking Ataxia Clonus Impaired tactile sensation Areflexia Dysarthria Amyotrophic lateral sclerosis Cerebellar atrophy Cognitive impairment Lower limb hypertonia Hypertonia Paraparesis Spastic paraparesis Muscle stiffness Intellectual disability Clumsiness Tetraparesis Confusion Dysphagia Limb dysmetria Impaired proprioception Absent Achilles reflex Motor deterioration Impaired smooth pursuit Spastic tetraparesis Recurrent fractures Spastic dysarthria Generalized muscle weakness Abnormality of skeletal morphology Limb fasciculations Tongue fasciculations EMG: neuropathic changes Lower limb hyperreflexia Elevated alkaline phosphatase Bone pain Impaired vibratory sensation Degeneration of the lateral corticospinal tracts Arthralgia Generalized limb muscle atrophy Atrophy of the spinal cord Distal lower limb muscle weakness Progressive spastic paraplegia Gait ataxia Abnormality of the skeletal system Abnormal nerve conduction velocity Sensory axonal neuropathy Decreased motor nerve conduction velocity Progressive cerebellar ataxia Hand muscle weakness Cold-induced hand cramps First dorsal interossei muscle atrophy First dorsal interossei muscle weakness Thenar muscle weakness Peroneal muscle weakness Thenar muscle atrophy Upper limb muscle weakness Rigidity Limb hypertonia Pes planus Ankle clonus Talipes equinovarus Progressive spasticity Intellectual disability, mild Scoliosis Unsteady gait Sensory neuropathy Degeneration of anterior horn cells Dysmetria Abnormality of movement Poor speech Pallor of dorsal columns of the spinal cord Diffuse axonal swelling Peripheral axonal degeneration Abnormal lower motor neuron morphology Postural instability Axonal loss Axonal degeneration Abnormal pyramidal sign Foot dorsiflexor weakness Split hand Abolished vibration sense Pain insensitivity Increased spinal bone density



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