Myopathy, and Cerebellar atrophy

Diseases related with Myopathy and Cerebellar atrophy

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

Top matches:

CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. More severely affected individuals may have pes cavus and claw hands and become wheelchair-bound, whereas other affected individuals have later onset with a milder disease course. Electrophysiologic studies tend to show median motor nerve conduction velocities (NCV) in the 'intermediate' range, between 25 and 45 m/s (summary by Berciano et al., 2017).In a review of intermediate CMT, Berciano et al. (2017) noted that advanced axonal degeneration may induce secondary demyelinating changes resulting in decreased NCV and attenuated compound muscle action potential (CMAP) in median nerve conduction studies. They thus suggested that testing the upper arm, axilla to elbow, may provide more accurate assessment of NCV and CMAP and reveal an intermediate phenotype (review by Berciano et al., 2017).For a discussion of genetic heterogeneity of CMTDI, see {606482}.

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG

Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline. Involvement of the horizontal extraocular muscles is variable. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as 'CFEOM1' (Engle et al., 1997; Heidary et al., 2008).CFEOM2 (OMIM ), an autosomal recessive disorder caused by mutation in the ARIX gene (OMIM ) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position.The CFEOM3 phenotype shows more variable clinical features: affected individuals may have unilateral eye involvement, may be able raise their eyes above midline, or may not have blepharoptosis. CFEOM3 is diagnosed in a family if even 1 member does not have classic findings of the disorder. CFEOM3 is a genetically heterogeneous disorder; CFEOM3A with or without extraocular involvement (OMIM ) is caused by mutation in the TUBB3 gene (OMIM ) on chromosome 16q24; CFEOM3B is caused by mutation in the KIF21A gene (OMIM ) on chromosome 12q12; and CFEOM3C (OMIM ) maps to chromosome 13q.CFEOM4 (OMIM ), also known as Tukel syndrome, maps to chromosome 21q.CFEOM5 (OMIM ) is caused by mutation in the COL25A1 gene (OMIM ) on chromosome 4q25.See also NOMENCLATURE below.

CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES Is also known as feom|feom1 locus|ophthalmoplegia, congenital|blepharoptosis with absent eye movements

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Strabismus
  • Ptosis
  • Optic atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES

Congenital muscular dystrophy without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.

CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY Is also known as cmd without intellectual disability|cmd-no mr|congenital muscular dystrophy-dystroglycanopathy without intellectual disability

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Motor delay
  • Ventriculomegaly


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY

Other less relevant matches:

MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6 Is also known as mdc1d|muscular dystrophy, congenital, large-related|muscular dystrophy, congenital, type 1d

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Nystagmus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6

Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24 Is also known as coxpd24

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24

Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.

GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME Is also known as gerstmann-straussler-scheinker disease|prion dementia|subacute spongiform encephalopathy, gerstmann-straussler type|encephalopathy, subacute spongiform, gerstmann-straussler type|amyloidosis, cerebral, with spongiform encephalopathy|cerebellar ataxia, pro

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME

MDDGB5 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5 Is also known as muscular dystrophy, congenital, fkrp-related|mdc1c|muscular dystrophy, congenital, 1c

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5

Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).

OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY Is also known as dominant optic atrophy plus syndrome|doa+

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY

Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

Medium match BEHR SYNDROME; BEHRS

'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984).Patients with mutations in genes other than OPA1 can present with clinical features reminiscent of Behr syndrome. Mutations in one of these genes, OPA3 (OMIM ), result in type III 3-methylglutaconic aciduria (MGCA3 ). Lerman-Sagie (1995) noted that the abnormal urinary pattern in MGCA3 may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may actually have been 3-methylglutaconic aciduria type III.

BEHR SYNDROME; BEHRS Is also known as optic atrophy, infantile hereditary, with neurologic abnormalities

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BEHR SYNDROME; BEHRS

Top 5 symptoms//phenotypes associated to Myopathy and Cerebellar atrophy

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopathy and Cerebellar atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Hyperreflexia Global developmental delay Proximal muscle weakness Achilles tendon contracture Elevated serum creatine phosphokinase Gait ataxia Motor delay Gait disturbance Optic atrophy Dysarthria Peripheral neuropathy Hearing impairment Muscle cramps Abnormality of the cerebral white matter Encephalopathy Difficulty walking Ventriculomegaly Microcephaly Frequent falls Pachygyria Facial palsy EMG: myopathic abnormalities Congenital muscular dystrophy Cerebellar cyst Flexion contracture Gliosis Ptosis Ragged-red muscle fibers Cognitive impairment Dysphagia Neuronal loss in central nervous system Tremor Strabismus Babinski sign Progressive cerebellar ataxia Limb muscle weakness Pes cavus Muscle weakness Lower limb muscle weakness Areflexia

Rare Symptoms - Less than 30% cases

Macroglossia Muscular dystrophy Myopia Muscular hypotonia Unsteady gait Dystonia Sensorineural hearing impairment Mental deterioration Paralysis Tetraparesis Proximal amyotrophy Abnormal pyramidal sign Abnormal electroretinogram Myoclonus Horizontal nystagmus Dementia Mildly elevated creatine phosphokinase Visual loss Skeletal muscle atrophy Hyporeflexia Feeding difficulties Blindness Intellectual disability, mild Cerebral atrophy Cerebral cortical atrophy Progressive visual loss Neurodegeneration Brain atrophy Dysmetria Abnormality of eye movement Toe walking Axonal degeneration Gowers sign Sensorimotor neuropathy Clumsiness Neonatal hypotonia Myalgia Ophthalmoplegia Depressivity Generalized muscle weakness Heterotopia Waddling gait Aphasia Lewy bodies Autistic behavior Dysesthesia Spastic paraplegia Supranuclear gaze palsy Hypomimic face Increased variability in muscle fiber diameter Paraplegia Impaired smooth pursuit Neurofibrillary tangles External ophthalmoplegia Insomnia Perseveration Reduced visual acuity Feeding difficulties in infancy Cerebral amyloid angiopathy Vertebral fusion Hypoplasia of the pons Shoulder girdle muscle atrophy Thigh hypertrophy Hypertrophy of the lower limb Shoulder girdle muscle weakness Anemia Absent septum pellucidum Difficulty climbing stairs Scoliosis Calf muscle hypertrophy Delayed gross motor development Hyperlordosis Restrictive deficit on pulmonary function testing Dilatation Hypogonadism Kyphosis Progressive sensorineural hearing impairment Centrocecal scotoma Macrocytic anemia Falls Brisk reflexes Reduced subcutaneous adipose tissue Limb dystonia Loss of speech Progressive encephalopathy Generalized lipodystrophy Progressive psychomotor deterioration Caudate atrophy Poor motor coordination Reduced intraabdominal adipose tissue Abnormal cerebellum morphology Lipodystrophy Aciduria Bilateral sensorineural hearing impairment Spastic gait Dysdiadochokinesis Abnormality of mitochondrial metabolism Progressive spasticity Rimmed vacuoles Congenital nystagmus Upper motor neuron dysfunction 3-Methylglutaconic aciduria Hamstring contractures Hyperinsulinemia Acanthosis nigricans Central scotoma Respiratory insufficiency Progressive external ophthalmoplegia Episodic ataxia Abnormal auditory evoked potentials Red-green dyschromatopsia Tritanomaly Alzheimer disease Abnormal amplitude of pattern reversal visual evoked potentials Delayed speech and language development Hypertension Hepatomegaly Hypertonia Generalized hirsutism Hyperactivity Respiratory failure Coarse facial features Developmental regression Respiratory tract infection Cirrhosis Hepatic steatosis Sleep disturbance Status epilepticus Hypertriglyceridemia Insulin resistance Global brain atrophy Tetraplegia Athetosis Cerebellar hypoplasia Facial diplegia Polyneuropathy Inability to walk Limb-girdle muscle atrophy Fatty replacement of skeletal muscle Reduced muscle fiber alpha dystroglycan Distal sensory impairment Short stature Intellectual disability, profound Sensory impairment Open mouth Joint contracture of the hand Elbow flexion contracture Hypoplasia of the brainstem Skeletal muscle hypertrophy Abnormality of neuronal migration Myopathic facies Lower limb hyperreflexia Abnormality of the periventricular white matter Postural instability Peripheral demyelination Mild myopia Progressive gait ataxia Steppage gait Blepharophimosis Astigmatism Esotropia Pigmentary retinopathy Amblyopia Exotropia Diplopia Bilateral ptosis Abnormal cranial nerve morphology Split hand Congenital ptosis Congenital fibrosis of extraocular muscles Restrictive external ophthalmoplegia Compensatory chin elevation Levator palpebrae superioris atrophy Superior rectus atrophy Sensory exotropia Secondary esotropia Kyphoscoliosis Decreased light- and dark-adapted electroretinogram amplitude Abnormality of the foot Emotional lability Chronic diarrhea Parkinsonism Memory impairment Hip dysplasia Bradykinesia Abnormality of extrapyramidal motor function Apraxia Spastic tetraplegia Psychosis Involuntary movements Limb ataxia Paresthesia Hallucinations Truncal ataxia Muscle stiffness Mutism Hyperkinesis Slurred speech Apathy Personality changes Akinesia Coma Confusion Intellectual disability, severe CNS hypomyelination Agenesis of corpus callosum Acidosis Metabolic acidosis Increased serum lactate Distal muscle weakness Generalized-onset seizure Cerebral visual impairment Progressive microcephaly Spastic tetraparesis Glomerulosclerosis Poor speech Focal segmental glomerulosclerosis Opisthotonus Metabolic alkalosis Diarrhea Weight loss Rigidity Anxiety Aggressive behavior Abnormality of the eye Adductor longus contractures


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