Muscle weakness, and Peripheral neuropathy

Diseases related with Muscle weakness and Peripheral neuropathy

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

Top matches:

Related symptoms:

  • Peripheral neuropathy
  • Fever
  • Skeletal muscle atrophy
  • Lower limb muscle weakness


SOURCES: OMIM MESH MENDELIAN

More info about NEUROPATHY, PAINFUL

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

Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

Related symptoms:

  • Motor delay
  • Skeletal muscle atrophy
  • Gait disturbance
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Other less relevant matches:

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C Is also known as charcot-marie-tooth neuropathy, dominant intermediate c|di-cmtc|cmtdic

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Distal muscle weakness
  • Abnormality of the foot
  • Distal amyotrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C

Related symptoms:

  • Facial palsy
  • Interstitial pulmonary abnormality


SOURCES: OMIM MENDELIAN

More info about SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2

Charcot-Marie-Tooth disease type 2DD is an autosomal dominant peripheral sensorimotor neuropathy mainly affecting the lower limbs. Affected individuals have gait impairment due to distal muscle weakness and atrophy. Some patients may also have involvement of the distal upper limbs, resulting in atrophy of the intrinsic hand muscles. The age at onset and severity of the disorder is highly variable, even within families, and those with earlier onset in late childhood or the teenage years tend to have a more severe disease course. Patients remain ambulatory even late in the disease, although some may require orthotic devices (summary by Lassuthova et al., 2018).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2DD Is also known as charcot-marie-tooth neuropathy, type 2dd|cmt2dd|atp1a1-related autosomal dominant charcot-marie-tooth disease type 2|atp1a1-related cmt2

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Pes cavus
  • Distal muscle weakness
  • Peripheral axonal neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2DD

HMN9 is an autosomal dominant neurologic disorder characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs (summary by Tsai et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1 ).

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX; HMN9 Is also known as dhmn9|neuropathy, distal hereditary motor, type ix

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Areflexia
  • Paralysis
  • Distal muscle weakness


SOURCES: OMIM MENDELIAN

More info about NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX; HMN9

Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Q Is also known as charcot-marie-tooth neuropathy, type 2q|cmt2q|charcot-marie-tooth disease, axonal, autosomal dominant, type 2q

Related symptoms:

  • Skeletal muscle atrophy
  • Pes cavus
  • Difficulty walking
  • Lower limb muscle weakness
  • Sensory impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Q

This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.

X-LINKED HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH DEAFNESS Is also known as x-linked hsan with deafness|x-linked auditory neuropathy with peripheral sensory neuropathy type 1|auditory neuropathy, x-linked, 1, with peripheral sensory neuropathy|aunx1

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Areflexia
  • Unsteady gait


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH DEAFNESS

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D Is also known as di-cmtd|cmtdid|charcot-marie-tooth neuropathy, dominant intermediate d

Related symptoms:

  • Skeletal muscle atrophy
  • Areflexia
  • Hyporeflexia
  • Distal muscle weakness
  • Distal amyotrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D

Top 5 symptoms//phenotypes associated to Muscle weakness and Peripheral neuropathy

Symptoms // Phenotype % cases
Distal muscle weakness Common - Between 50% and 80% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Distal sensory impairment Uncommon - Between 30% and 50% cases
Areflexia Uncommon - Between 30% and 50% cases
Sensory impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscle weakness and Peripheral neuropathy. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Peripheral demyelination Peripheral axonal neuropathy Pes cavus Upper limb muscle weakness Distal amyotrophy Onion bulb formation Hyporeflexia Lower limb muscle weakness Sensory neuropathy Paralysis Unsteady gait Hand muscle weakness Progressive distal muscle weakness Difficulty walking Hearing impairment Motor delay Tinnitus Decreased number of large peripheral myelinated nerve fibers Sensory axonal neuropathy Abnormal speech discrimination Abnormal middle ear reflexes Axonal degeneration Axonal degeneration/regeneration Motor axonal neuropathy Sensorimotor neuropathy Steppage gait Foot dorsiflexor weakness Gait disturbance Global developmental delay Interstitial pulmonary abnormality Facial palsy Axonal regeneration Short stature Fever Abnormality of the foot Hand muscle atrophy Decreased nerve conduction velocity Proximal muscle weakness Arrhythmia Segmental peripheral demyelination/remyelination


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