Peripheral neuropathy, and Limb-girdle muscular dystrophy

Diseases related with Peripheral neuropathy and Limb-girdle muscular dystrophy

In the following list you will find some of the most common rare diseases related to Peripheral neuropathy and Limb-girdle muscular dystrophy that can help you solving undiagnosed cases.


Top matches:

Medium match LAING EARLY-ONSET DISTAL MYOPATHY


Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.

LAING EARLY-ONSET DISTAL MYOPATHY Is also known as distal myopathy type 1|mpd1|gowers disease|myopathy, distal, swedish|muscular dystrophy, distal, late-onset, autosomal dominant

Related symptoms:

  • Muscle weakness
  • Myopathy
  • Proximal muscle weakness
  • Distal muscle weakness
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LAING EARLY-ONSET DISTAL MYOPATHY

Medium match DISTAL MYOTILINOPATHY


Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.

DISTAL MYOTILINOPATHY Is also known as muscular dystrophy, limb-girdle, type 1, formerly|lgmd1, formerly|lgmd1a, formerly|myopathy, myofibrillar, myotilin-related|muscular dystrophy, limb-girdle, type 1a, formerly|myotilinopathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DISTAL MYOTILINOPATHY

Medium match GLYCOGEN STORAGE DISEASE IV; GSD4


GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

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Other less relevant matches:

Medium match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Medium match MYOPATHY, MYOFIBRILLAR, 1; MFM1


Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

Medium match AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY


Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as edmd3

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY

Medium match INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.

INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA Is also known as pagetoid neuroskeletal syndrome|msp1|pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with paget disease of bone|limb-girdle muscular dystrophy with paget disease of bone|ibmpfd|lower motor neuron degener

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Cataract
  • Skeletal muscle atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA

Low match CONGENITAL MUSCULAR DYSTROPHY TYPE 1A


Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Low match PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3


Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3 Is also known as muscular atrophy, juvenile|sma3|spinal muscular atrophy, mild childhood and adolescent form|kugelberg-welander syndrome|sma iii|kugelberg-welander disease|sma-iii|juvenile spinal muscular atrophy|sma type 3|sma type iii|kws

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Hyporeflexia
  • Proximal muscle weakness
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3

Low match ZEBRA BODY MYOPATHY


Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved.

Related symptoms:

  • Global developmental delay
  • Elevated serum creatine phosphokinase
  • Neonatal hypotonia
  • Proximal muscle weakness
  • Facial palsy


SOURCES: ORPHANET MENDELIAN

More info about ZEBRA BODY MYOPATHY

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Limb-girdle muscular dystrophy

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Proximal muscle weakness Very Common - Between 80% and 100% cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Myopathy Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Peripheral neuropathy and Limb-girdle muscular dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Limb muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Skeletal muscle atrophy Rimmed vacuoles Flexion contracture Cardiomyopathy Gait disturbance Lower limb muscle weakness Distal muscle weakness Waddling gait Muscular hypotonia Progressive muscle weakness EMG: myopathic abnormalities Hyporeflexia Hyperlordosis Difficulty climbing stairs Facial palsy Fasciculations Scapular winging Hyporeflexia of lower limbs Intellectual disability Distal amyotrophy Sudden cardiac death Spinal muscular atrophy Dilated cardiomyopathy Respiratory failure Progressive proximal muscle weakness Congestive heart failure Dysphagia Dilatation Arrhythmia Myofibrillar myopathy Myalgia Respiratory insufficiency Areflexia Autophagic vacuoles Scoliosis Pneumonia

Rare Symptoms - Less than 30% cases


Lumbar hyperlordosis Pain Paresthesia Muscle cramps Joint stiffness Aspiration Respiratory distress Calf muscle hypertrophy Amyotrophic lateral sclerosis Atrial fibrillation Motor neuron atrophy Bulbar palsy Pelvic girdle muscle atrophy Cataract Hand tremor Neck muscle weakness Spinal rigidity Elbow flexion contracture Hypokinesia Increased variability in muscle fiber diameter Myopathic facies Atrioventricular block Neonatal hypotonia Respiratory insufficiency due to muscle weakness Palpitations Vertigo Akinesia Centrally nucleated skeletal muscle fibers Difficulty walking Dyspnea Increased connective tissue Hypertension Pelvic girdle muscle weakness Generalized hypotonia Achilles tendon contracture Muscle stiffness Decreased fetal movement Generalized muscle weakness Shoulder girdle muscle atrophy Dysarthria Mildly elevated creatine phosphokinase Proximal lower limb amyotrophy Myotonia Ventriculomegaly Generalized amyotrophy Shoulder girdle muscle weakness Back pain Congenital muscular dystrophy Reduced tendon reflexes Pathologic fracture Frontotemporal dementia Cerebral cortical atrophy Dementia Increased susceptibility to fractures Pelvic girdle amyotrophy Urinary bladder sphincter dysfunction Abnormality of the vertebral column EMG: chronic denervation signs Dysphasia EMG: neuropathic changes Alzheimer disease Dystonia Temporal cortical atrophy Sensory axonal neuropathy Ubiquitin-positive cerebral inclusion bodies Short stature Restricted neck movement due to contractures Decreased cervical spine flexion due to contractures of posterior cervical muscles Aphasia Abnormality of long bone morphology Abnormality of calvarial morphology Upper motor neuron dysfunction Hip pain Dyscalculia Fatty replacement of skeletal muscle Abnormality of pelvic girdle bone morphology Mutism Osteolysis Tetraparesis Calvarial hyperostosis Cranial nerve compression Semantic dementia Frontal cortical atrophy Abnormal motor neuron morphology Neuronal loss in central nervous system Elevated alkaline phosphatase of bone origin Elevated alkaline phosphatase Brain atrophy Motor axonal neuropathy Hepatic steatosis Scapuloperoneal weakness Language impairment Open mouth Weakness of muscles of respiration Abnormal brainstem MRI signal intensity Abnormal cortical gyration Reduced ejection fraction Atelectasis Astrocytosis Cerebral edema Muscle fiber atrophy Diffuse white matter abnormalities Pontocerebellar atrophy Impaired mastication Increased endomysial connective tissue Inferior vermis hypoplasia Hypointensity of cerebral white matter on MRI Abnormality of the temporomandibular joint Intercostal muscle weakness Absent muscle fiber merosin Recurrent lower respiratory tract infections Global developmental delay Muscle fiber necrosis Muscle fiber splitting Axial muscle weakness Nemaline bodies Gowers sign Torticollis Limb fasciculations Highly elevated creatine phosphokinase Lower limb amyotrophy Degeneration of anterior horn cells Tongue fasciculations Areflexia of lower limbs Abnormal lower motor neuron morphology EMG abnormality Myositis Abnormality of visual evoked potentials Seizures Inability to walk Cognitive impairment Motor delay Intellectual disability, severe Abnormality of metabolism/homeostasis Cerebellar hypoplasia Gastroesophageal reflux Kyphoscoliosis Intellectual disability, moderate Feeding difficulties in infancy Paralysis Hip dislocation Abnormality of the cerebral white matter Ophthalmoplegia Polymicrogyria Macroglossia Hypoventilation Absence seizures Abnormality of the periventricular white matter Protruding tongue Weak cry Focal impaired awareness seizure Poor suck Lissencephaly Congenital hip dislocation Focal-onset seizure Sensorimotor neuropathy Decreased body weight Heterotopia Pachygyria Pulmonary arterial hypertension Bradykinesia Absent muscle fiber emerin Skeletal myopathy Type 1 muscle fiber atrophy Gynecomastia Tubulointerstitial fibrosis Limb joint contracture Ataxia Tremor Infertility Facial asymmetry Sensory neuropathy Neurodegeneration Abnormal cerebellum morphology Type II diabetes mellitus Intention tremor Hyperlipidemia Esophageal varix Dysphonia Impotence Decreased fertility Muscle fibrillation Axonal loss Abnormality of lipid metabolism Overweight Abnormality of the mouth Aspiration pneumonia Bulbar signs Distal lower limb amyotrophy Oligospermia Generalized edema Fetal akinesia sequence Testicular atrophy Talipes equinovarus Falls Small hand Sensory impairment Clumsiness Frequent falls Steppage gait Polyneuropathy Progressive distal muscle weakness Muscle fiber cytoplasmatic inclusion bodies Failure to thrive Hepatomegaly Edema Exertional dyspnea Polyhydramnios Hepatosplenomegaly Abnormality of the liver Arthrogryposis multiplex congenita Cirrhosis Hepatic failure Ascites Hydrops fetalis Hepatic fibrosis Decreased liver function Exercise intolerance Portal hypertension Kinetic tremor Hyperlipoproteinemia Proximal upper limb amyotrophy Toe walking Micrognathia Abnormal facial shape Ptosis Kyphosis Obesity Pectus excavatum Ichthyosis Hypertriglyceridemia Abnormal lung morphology Diplopia Lipodystrophy Restrictive ventilatory defect Pica Sprengel anomaly Ankle contracture Progeroid facial appearance Limb-girdle muscle weakness Decreased HDL cholesterol concentration Proximal muscle weakness in lower limbs Supraventricular arrhythmia Increased LDL cholesterol concentration Proximal muscle weakness in upper limbs Limb-girdle muscle atrophy Permanent atrial fibrillation Ventricular escape rhythm Restrictive heart failure Late-onset proximal muscle weakness Decreased LDL cholesterol concentration Syncope Tongue atrophy Limb tremor Exercise-induced muscle cramps Erectile abnormalities Laryngospasm Proximal spinal muscular atrophy Delayed speech and language development Diarrhea Constipation Hypertrophic cardiomyopathy Tachycardia Chest pain Ventricular hypertrophy Third degree atrioventricular block Myocardial infarction Ventricular tachycardia Tricuspid regurgitation Bundle branch block Right bundle branch block Heart block Ventricular extrasystoles Atrial flutter Restrictive cardiomyopathy Right ventricular cardiomyopathy Intestinal pseudo-obstruction Sick sinus syndrome Handgrip myotonia



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