Skeletal muscle atrophy, and Paresthesia

Diseases related with Skeletal muscle atrophy and Paresthesia

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Paresthesia that can help you solving undiagnosed cases.


Top matches:

Low match YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY


Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.

YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY Is also known as young adult-onset dhmn|autosomal recessive distal spinal muscular atrophy type 5|dsma5

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY

Low match NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D


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

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F


Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F Is also known as charcot-marie-tooth neuropathy, type 2f|charcot-marie-tooth disease, neuronal, type 2f|cmt2f

Related symptoms:

  • Hearing impairment
  • Pain
  • Peripheral neuropathy
  • Talipes equinovarus
  • Areflexia


SOURCES: ORPHANET OMIM MESH MENDELIAN

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

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Other less relevant matches:

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 1A


CHARCOT-MARIE-TOOTH DISEASE TYPE 1A Is also known as cmt1a|microduplication 17p12|charcot-marie-tooth neuropathy, type 1f

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

Low match AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B


Autosomal dominant intermediate Charcot-Marie-Tooth disease type B 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 demyelination and axonal degeneration in nerve biopsies. It presents with mild to 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, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cataract
  • Peripheral neuropathy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

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

Low match NEURALGIC AMYOTROPHY


Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.

NEURALGIC AMYOTROPHY Is also known as mononeuritis multiplex with brachial predilection|acute brachial plexus neuritis|immune brachial plexus neuropathy|brachial plexus neuritis|neuralgic shoulder amyotrophy

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about NEURALGIC AMYOTROPHY

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H


Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H Is also known as sarcotubular myopathy|lgmd2h|muscular dystrophy, hutterite type|limb-girdle muscular dystrophy due to trim32 deficiency|muscular dystrophy, limb-girdle, type 2h

Related symptoms:

  • Muscle weakness
  • Pain
  • Gait disturbance
  • Myopathy
  • Areflexia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H

Low match HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES


Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES Is also known as hnpp|potato-grubbing palsy|polyneuropathy, familial recurrent|current pressure-sensitive neuropathy|heterozygous microdeletion 17p11.2p12|tulip-bulb digger's palsy|tomaculous neuropathy

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y


Charcot-Marie-Tooth disease type 2Y is an autosomal dominant peripheral neuropathy characterized by distal muscle weakness and atrophy associated with length-dependent sensory loss. Most patients have involvement of both the lower and upper limbs. The age at onset and the severity of the disorder are highly variable (summary by Gonzalez et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y Is also known as charcot-marie-tooth disease, axonal, autosomal dominant, type 2y|cmt2y|autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation|cmt2 due to vcp mutation|charcot-marie-tooth neuropathy, type 2y

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy
  • Behavioral abnormality


SOURCES: ORPHANET OMIM MENDELIAN

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

Low match ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME


Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Paresthesia

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Peripheral neuropathy Very Common - Between 80% and 100% cases
Pes cavus Common - Between 50% and 80% cases
Hyporeflexia Common - Between 50% and 80% cases
Distal sensory impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Skeletal muscle atrophy and Paresthesia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Areflexia

Uncommon Symptoms - Between 30% and 50% cases


Distal muscle weakness Sensory impairment Distal amyotrophy Pain Peripheral axonal neuropathy Foot dorsiflexor weakness Sensory neuropathy Gait disturbance Lower limb muscle weakness Limb muscle weakness Difficulty walking Decreased motor nerve conduction velocity Steppage gait Scapular winging Segmental peripheral demyelination/remyelination Frequent falls

Rare Symptoms - Less than 30% cases


Sensory ataxia Gait ataxia Ataxia Generalized hypotonia Gait imbalance Onion bulb formation Decreased number of peripheral myelinated nerve fibers Sensorimotor neuropathy Abnormality of the foot Cerebellar atrophy Polyneuropathy Falls Peripheral demyelination Axonal degeneration Hammertoe Respiratory insufficiency Arthralgia Paralysis Intellectual disability EMG abnormality Elevated serum creatine phosphokinase Proximal muscle weakness Abnormality of the nervous system Motor delay Calf muscle hypertrophy Muscle cramps Hearing impairment Talipes equinovarus Hyperreflexia Cerebellar vermis atrophy Acute hepatic failure Tetraparesis Progressive gait ataxia Hoarse voice Cranial nerve paralysis Hepatic fibrosis Hypotelorism Intention tremor Back pain Abnormality of the voice Progressive cerebellar ataxia Axonal loss Distal lower limb muscle weakness Abnormal nerve conduction velocity Hodgkin lymphoma Myoclonus Proximal muscle weakness in lower limbs Shoulder girdle muscle atrophy Calf muscle pseudohypertrophy Pelvic girdle muscle atrophy Quadriceps muscle weakness Scoliosis Fatigue Weight loss Lymphoma Generalized limb muscle atrophy Abnormality of movement Confusion Inability to walk Dysmetric saccades Saccadic smooth pursuit Generalized muscle weakness Hepatic failure Hepatosplenomegaly Vocal cord paralysis Spasticity Optic atrophy Fever Neck flexor weakness Hepatomegaly Toe walking Amyotrophic lateral sclerosis Global developmental delay Unsteady gait Abnormality of hand joint mobility Abnormal joint morphology Impaired vibration sensation in the lower limbs Myositis Absent Achilles reflex Abnormality of peripheral nerve conduction Broad-based gait Tremor Abnormality of the liver Vocal cord paresis Poor fine motor coordination Constrictive median neuropathy Reduced visual acuity Low back pain Abnormal myelination Splenomegaly Myelin tomacula Cough Brachial plexus neuropathy Dysarthria Behavioral abnormality Dementia Dyspnea Intellectual disability, mild Hyperlordosis Pelvic girdle muscle weakness Sleep disturbance Exercise-induced myalgia Impaired temperature sensation Sleep apnea Impaired pain sensation EMG: neuropathic changes Distal lower limb amyotrophy Restless legs EMG: chronic denervation signs Chronic axonal neuropathy Fasciculations Upper limb amyotrophy Ulnar claw Limb fasciculations Kyphoscoliosis Abnormal pyramidal sign Infantile muscular hypotonia Hyperactive deep tendon reflexes Reduced tendon reflexes Split hand Progressive peripheral neuropathy Spastic paraplegia Dysphonia Spinal muscular atrophy Motor axonal neuropathy Peroneal muscle atrophy Progressive distal muscle weakness Nail dystrophy Paraplegia Talipes Nail dysplasia Cerebral palsy Sensory axonal neuropathy Osteomyelitis Distal sensory loss of all modalities Autoamputation Apnea Demyelinating peripheral neuropathy Diaphragmatic weakness Shoulder girdle muscle weakness Tall stature Acrocyanosis Myopathy Myalgia Facial palsy Muscular dystrophy Waddling gait EMG: myopathic abnormalities Round face Gowers sign Congenital muscular dystrophy Keratitis Mask-like facies Increased variability in muscle fiber diameter Centrally nucleated skeletal muscle fibers Progressive proximal muscle weakness Sprengel anomaly Neurological speech impairment Decreased sensory nerve conduction velocity Cataract Axonal regeneration Myelin outfoldings Shoulder pain Acute demyelinating polyneuropathy Spontaneous pain sensation Clusters of axonal regeneration Edema Narrow mouth Neutropenia Glomerulosclerosis Focal segmental glomerulosclerosis Peripheral axonal degeneration Segmental peripheral demyelination Short stature Cleft palate Stuttering



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