Myopathy, and Pes cavus

Diseases related with Myopathy and Pes cavus

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

Top matches:

The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011).

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET

Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by Rebelo et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC Is also known as charcot-marie-tooth neuropathy, type 2cc

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Gait disturbance
  • Myopathy
  • Hyporeflexia


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC

L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY Is also known as arginine:glycine amidinotransferase deficiency|gatm deficiency|agat deficiency|creatine deficiency syndrome due to agat deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

Other less relevant matches:

Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Pes cavus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL MYOPATHY, TATEYAMA TYPE

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

MYOPATHY, DISTAL, 1; MPD1 Is also known as myopathy, late distal hereditary|laing distal myopathy|myopathy, distal, early-onset, autosomal dominant

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • High palate
  • Tremor
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, DISTAL, 1; MPD1

NEM11 is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by Miyatake et al., 2017).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

Related symptoms:

  • Muscle weakness
  • High palate
  • Gait disturbance
  • Dysphagia
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE; NEM11

Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D Is also known as lgmd1d|lgmd1e|muscular dystrophy, limb-girdle, type 1d, formerly|muscular dystrophy, limb-girdle, type 1e|lgmd1d, formerly

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Dysarthria
  • Dysphagia
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D

Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E Is also known as cmt2e|charcot-marie-tooth neuropathy, type 2e

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

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

Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Abnormality of the skeletal system


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUSCULAR DYSTROPHY, SELCEN TYPE

Top 5 symptoms//phenotypes associated to Myopathy and Pes cavus

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases
Distal muscle weakness Common - Between 50% and 80% cases
Gait disturbance Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopathy and Pes cavus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hyporeflexia Facial palsy Distal sensory impairment High palate Sensory impairment Calf muscle hypertrophy Lower limb muscle weakness Waddling gait Peripheral neuropathy Difficulty walking Gowers sign Areflexia Skeletal muscle atrophy Impaired vibratory sensation Limb muscle weakness Muscle fiber splitting Motor delay Rimmed vacuoles Steppage gait Generalized hypotonia Scoliosis Cardiomyopathy Ragged-red muscle fibers Babinski sign Flexion contracture

Rare Symptoms - Less than 30% cases

Split hand Progressive proximal muscle weakness Respiratory insufficiency Paralysis Gait ataxia Dysphagia Nemaline bodies Neck muscle weakness Myalgia Polyneuropathy Hearing impairment Dysarthria Muscular dystrophy Myofibrillar myopathy Foot dorsiflexor weakness Generalized muscle weakness Ataxia Scapular winging Progressive muscle weakness Bulbar signs Sensorimotor neuropathy Increased variability in muscle fiber diameter Hammertoe EMG: neuropathic changes Tremor Hypokinesia Dysphonia Spinal canal stenosis Poor head control Toe walking Bulbar palsy Difficulty climbing stairs Generalized amyotrophy Limb-girdle muscular dystrophy Restrictive ventilatory defect Atrioventricular block Restrictive cardiomyopathy Skeletal myopathy Spinal rigidity Shoulder girdle muscle weakness Axonal loss Myopathic facies Thoracic scoliosis Dyspnea Demyelinating peripheral neuropathy Reduced vital capacity Myositis Increased connective tissue Nasal speech Ptosis Distal lower limb amyotrophy Decreased motor nerve conduction velocity Hypotrophy of the small hand muscles Congenital contracture Abnormality of the skeletal system Abnormality of the hand Distal amyotrophy Hypertrophic cardiomyopathy Mitral regurgitation Hyperkeratosis Respiratory distress Skeletal muscle fibrosis Ulnar claw Hyposegmentation of neutrophil nuclei Weakness of the intrinsic hand muscles Percussion myotonia Fatty replacement of skeletal muscle Abnormal lung morphology Abnormality of muscle fibers Knee flexion contracture Autophagic vacuoles Loss of ability to walk Pelvic girdle muscle weakness EMG: myopathic abnormalities Easy fatigability Postural instability Ophthalmoplegia Sensory axonal neuropathy Autism Behavioral abnormality Intellectual disability, severe Delayed speech and language development Cognitive impairment Failure to thrive Global developmental delay Seizures Intellectual disability Upper limb amyotrophy Lower limb amyotrophy Upper limb muscle weakness Pyloric stenosis Aciduria Frequent falls Falls Peripheral axonal neuropathy Frontotemporal dementia Mitochondrial myopathy Amyotrophic lateral sclerosis Spinal muscular atrophy Fasciculations Intention tremor Muscle cramps Pes planus Dementia Autistic behavior Infantile muscular hypotonia Respiratory failure Peripheral demyelination Pectus excavatum Talipes equinovarus Toe extensor amyotrophy Amyotrophy of ankle musculature Weakness of long finger extensor muscles Left atrial enlargement Abnormality of the mitochondrion Type 1 muscle fiber predominance Mildly elevated creatine phosphokinase Dilated cardiomyopathy Axonal degeneration Clumsiness Progressive cerebellar ataxia Failure to thrive in infancy Inability to walk Unsteady gait Abnormality of the foot Cerebellar atrophy Spasticity Nystagmus Gastritis Palpitations Abnormality of creatine metabolism Organic aciduria Long fingers Decreased muscle mass Language impairment Diaphragmatic paralysis


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